bromochloroacetic-acid and Rhabdoid-Tumor

Topics: Chromosomal Proteins, Non-Histone; Diagnosis, Differential; DNA-Binding Proteins; Follow-Up Studies; Humans; Infant; Infant, Newborn; Keratins; Male; Mucin-1; Phosphopyruvate Hydratase; Rhabdoid Tumor; Rhabdomyosarcoma; S100 Proteins; Sarcoma; Sarcoma, Clear Cell; Skin Neoplasms; SMARCB1 Protein; Transcription Factors; Vimentin

Malignant rhabdoid tumor, first described in the kidney of young infants, is a rare and highly aggressive neoplasm of controversial histogenesis that has been reported at many other sites, including the gastrointestinal tract. However, malignant rhabdoid tumor of the small intestine is very rare, with only seven cases published to date. We report a 70-year-old man who presented with abdominal pain and weight loss, and showed a perforated jejunal mass with disseminated metastases by imaging. The patient underwent partial jejunectomy and biopsy of a liver metastasis. Microscopically, the tumor was characterized by neoplastic cells with vesicular nuclei, large nucleoli and abundant eccentric cytoplasm with hyaline globular intracytoplasmic inclusions. Immunohistochemically, the neoplasm coexpressed vimentin and epithelial antigens (AE1/AE3, Cam 5.2, CK34betaE12, CK19 and EMA), most of them showing a peculiar immunostaining pattern in relation to the globular inclusions. Ultrastructurally, the inclusions corresponded to paranuclear whorls of intermediate filaments. The patient received postoperative chemotherapy but died 9 months after surgery. In summary, we report the exceptional case of an undifferentiated carcinoma of the jejunum with rhabdoid phenotype. As with tumors at other sites, recognition of rhabdoid morphology in small intestine neoplasms is of significance because the prognosis is extremely poor.

Topics: Aged; Anion Exchange Protein 1, Erythrocyte; Biomarkers; Biopsy; Carcinoma; Cell Nucleolus; Fatal Outcome; Humans; Hyalin; Immunohistochemistry; Inclusion Bodies; Jejunal Neoplasms; Jejunum; Keratins; Liver; Liver Neoplasms; Male; Neoplasm Proteins; Rhabdoid Tumor; Vimentin

Atypical teratoid/rhabdoid tumor of the central nervous system is a highly malignant neoplasm and that usually arises in the posterior fossa, survival from this is frequently poor. We present a unique case in a 21-month-old girl who had an atypical teratoid/rhabdoid tumor with cystic components located in the right fronto-parietal lobe. The patient underwent radical surgical intervention followed by chemotherapy. It consisted of five chemotherapeutic agents, but the patient did not receive any radiotherapy. The postoperative course was uneventful and the patient was followed-up by cranial magnetic resonance imaging every 3 months. Two years later at the last follow-up visit, there was no evidence of a tumor relapse on MRI, and the examination was symptom free. It is possible the favorable outcome of the patient resulted from a rapid diagnosis, prompt management, radical surgical intervention and aggressive chemotherapy.

Topics: Actins; Antineoplastic Combined Chemotherapy Protocols; Biomarkers, Tumor; Chemotherapy, Adjuvant; Combined Modality Therapy; Diagnosis, Differential; Female; Follow-Up Studies; Frontal Lobe; Glial Fibrillary Acidic Protein; Humans; Infant; Keratins; Magnetic Resonance Imaging; Microsurgery; Mitotic Index; Necrosis; Neurologic Examination; Parietal Lobe; Rhabdoid Tumor; Supratentorial Neoplasms; Teratoma; Vimentin

Atypical teratoid/rhabdoid tumor (ATRT) and choroid plexus tumors (CPT) represent, so far, 2 well defined types of CNS neoplasm on the basis of their histological features and clinical presentation (10). While CPTs are intraventricular epithelial tumors arising from choroid plexus epithelium, the cellular origin of ATRTs is still unknown. Inactivating mutations of the hSNF5/INI-1 gene located in the chromosomal region 22q11.2 are regarded as a crucial step in the molecular pathogenesis of ATRTs; the genetic changes associated with CPTs are largely unknown. However, the recent finding of inactivation of hSNF5/INI-1 in choroid plexus carcinomas and papillomas (9, 18) points to a closer relationship between these 2 entities. This is supported by the occurence of choroid plexus carcinomas (CPC) in the setting of families with rhabdoid predisposition syndrome (RPS), (19) caused by germ line inactivation of the INI1 gene.

Topics: Central Nervous System Neoplasms; Choroid Plexus Neoplasms; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; Gene Silencing; Humans; Keratins; Mutation; Rhabdoid Tumor; Sequence Analysis, DNA; SMARCB1 Protein; Teratoma; Transcription Factors

The term malignant rhabdoid tumor (MRT) has been used to describe a heterogeneous group of neoplasms, having in common distinct so-called "rhabdoid" cytologic features. The recent discovery of a candidate tumor suppressor gene for MRT, INI1 on chromosome (Ch)22q11.2, has re-established this neoplasm as a distinct entity. Malignant rhabdoid tumor may arise either de novo from nonneoplastic cells or through tumor progression from other types of neoplasms. These latter tumors, in which other nonrhabdoid tumor components are identified, may be termed composite MRT. In order to avoid misdiagnosing MRT as other types of neoplasia, one must keep in mind three distinct clinicopathologic features--young age of onset, variable histologic and immunohistochemical patterns, and an aggressive infiltrative character. In difficult cases, cytogenetics, fluorescence in situ hybridization (FISH), and molecular genetic analysis may assist in diagnosing MRT.

Topics: Child, Preschool; Humans; Infant; Keratins; Kidney Neoplasms; Neoplasm Invasiveness; Rhabdoid Tumor; Rhabdomyosarcoma; Vimentin

The malignant rhabdoid tumor (MRT) has been a controversial lesion since its seminal description. There is no consensus as to whether it represents a distinctive clinicopathological entity or, alternatively, a phenotypic pattern that is potentially common to several disparate neoplasms. MRT of the kidney is a childhood tumor that is associated with uniformly aggressive behavior, but it shows a wide spectrum of histologic, immunophenotypic, and cytogenetic findings. Malignant extrarenal rhabdoid tumors (MERTs) have been observed in pure form over a broader range of patient ages and anatomic locations, but they show substantial morphological and biological homology with renal MRT. Lastly, "composite" extrarenal rhabdoid tumors (CERTs)--in which recognizable "parent" neoplasms are admixed with MERTs--also have been recognized in several topographic sites. In aggregate, these observations suggest that "rhabdoid tumors" are a heterogeneous group of lesions with dissimilar lineages of differentiation. Particularly in CERTs, it is likely that the rhabdoid phenotype represents a common end point of clonal evolution in tumors of clearly different origins. Despite these caveats, the authors do support retention of the diagnosis of "rhabdoid tumor," because the affiliated morphological pattern is uniformly attended by aggressive biological behavior despite potential dissimilarities at a subcellular level.

Topics: Abdominal Neoplasms; Central Nervous System Neoplasms; Child, Preschool; Female; Head and Neck Neoplasms; Humans; Immunohistochemistry; Infant; Infant, Newborn; Keratins; Kidney Neoplasms; Male; Mucin-1; Rhabdoid Tumor

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare, highly malignant tumor of the central nervous system with poor prognosis. Nowadays, multimodal management, including surgery, chemotherapy (CMT), and radiation therapy (RT), is advocated. However, AT/RT treatment with gamma knife surgery (GKS) was rarely reported. The aim of this study was to assess the efficacy and safety of GKS for the treatment of AT/RT.. Medical records of AT/RT patients who underwent surgery from 2007 to 2014 at the West China Hospital were retrospectively reviewed and statistically analyzed.. Eighteen patients (12 males and 6 females) were presented with AT/RTs. Median age during presentation was 20.5 months (range, 4-179 months). Twelve patients were < 3 years and six patients were > 3 years. Tumor location was supratentorial in seven patients, infratentorial in ten patients, and center area of the brain in one patient. Treatments performed were as follows: surgery alone in two patients, surgery+RT in two patients, surgery+CMT in five patients, surgery+CMT+RT in two patients, and surgery+CMT+RT+GKS in seven patients. The 2-year overall survival (OS) rate and event-free survival (EFS) rate for all 18 consecutive patients were 33.3 and 27.8%, respectively. Cox regression analyses showed that multimodal management combined with GKS was an independent positive prognostic factor for OS.. Although AT/RTs are lethal cancer types, the OS of the disease was improved by using multimodal therapeutic strategies, including surgery, CMT, and RT, combined with GKS.

Topics: Adolescent; Antineoplastic Agents; Central Nervous System Neoplasms; Child; Child, Preschool; Combined Modality Therapy; Female; Humans; Infant; Keratins; Male; Mucin-1; Nerve Tissue Proteins; Radiosurgery; Retrospective Studies; Rhabdoid Tumor; Treatment Outcome; Vimentin

Astroblastoma is a rare neuroepithelial neoplasm of unknown origin, usually occurring in children and young adults. Here we report a case of astroblastoma with uncommon features in an 18-year-old female. The tumor was a well-circumscribed cystic and solid mass with marked gadolinium enhancement in the right frontal lobe. Cytological examination showed polarized monopolar cells with diminished cohesiveness. Tumor cells possessed eccentric round to oval nuclei with abundant eosinophilic cytoplasm, sometimes having cytoplasmic processes. Histopathologically, the tumor showed perivascular pseudorosettes with prominent vascular sclerosis. Foam cells were frequently infiltrated around blood vessels and among tumor cells. In some areas, a solid growth pattern of plump tumor cells with abundant inclusion-like eosinophilic cytoplasm showing rhabdoid appearance was observed. The immunohistochemical study revealed strong and diffuse positivity for vimentin and epithelial membrane antigen. Tumor cells were focally positive for glial fibrillary acidic protein and cytokeratin AE1/AE3. Nuclear immunoreactivity for INI1 protein was evident. The Ki-67 labeling index was 10.8%. This tumor was finally diagnosed as low-grade astroblastoma and the patient had no evidence of recurrence without postoperative radiotherapy or chemotherapy during the last 6 months of follow-up. This report describes novel cytological, histopathological, and immunohistochemical features of the rare tumor.

Topics: Adolescent; Biomarkers, Tumor; Brain Neoplasms; Female; Follow-Up Studies; Glial Fibrillary Acidic Protein; Humans; Keratins; Ki-67 Antigen; Mucin-1; Neoplasm Grading; Neoplasms, Neuroepithelial; Rhabdoid Tumor; Treatment Outcome; Vimentin

Atypical teratoid/rhabdoid tumors are rare malignant pediatric brain tumors. This study was performed to characterize the clinicopathologic and neuroradiologic characteristics of atypical teratoid/rhabdoid tumors from 8 patients, including 5 male and 3 female infants (median age, 67 months). Neuroimaging revealed bulky masses of heterogeneous intensity with inhomogeneous enhancement. Three cases were infratentorial and 5 were supratentorial. Histopathologically, the tumors were predominantly composed of rhabdoid cells and undifferentiated small cells, mixed with some spindle or epithelial components. The tumors displayed striking polyphenotypic immunoreactivity, including varying degrees of positivity for vimentin, epithelial membrane antigen, smooth-muscle actin, cytokeratin, glial fibrillary acidic protein, neurofilament protein, synaptophysin, and CD99, and immunonegativity for desmin, placental alkaline phosphatase, and INI-1. The median survival duration was 9.5 months (range, 1-15 months) despite aggressive therapy. These results suggest that atypical teratoid/rhabdoid tumors display distinct clinicopathologic characteristics and indicate a poor prognosis. Immunohistochemistry facilitates the appropriate diagnosis of these tumors.

Topics: 12E7 Antigen; Adolescent; Antigens, CD; Brain Neoplasms; Cell Adhesion Molecules; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; Female; Humans; Infant; Keratins; Male; Mucin-1; Retrospective Studies; Rhabdoid Tumor; SMARCB1 Protein; Teratoma; Tomography, X-Ray Computed; Transcription Factors; Young Adult

To study the immunophenotype and molecular genetics of epithelioid sarcoma (ES), INI1 expression and its role in differential diagnosis.. Twenty cases of ES were retrieved from the archival files and selected for immunohistochemical study, DNA sequencing and fluorescence in-situ hybridization. The clinical and pathologic features were also reviewed.. The age of patients ranged from 16 to 75 years (mean = 40.2 years). The median age of patients in classic ES and proximal-type was 37.9 years and 42.0 years, respectively. The male-to-female ratio was 1.2: 1.0. Classic ES mostly occurred in the extremities while proximal-type ES often affected the perineum and external genitalia and trunk. Histologically, granuloma-like structures, consisting of aggregates of epithelioid and spindly tumor cells with central necrosis, were observed in classic ES. The epithelioid tumor cells contained abundant eosinophilic cytoplasm, merged with spindly cells at the periphery and admixed with collagen fibers. In proximal-type ES, the tumor cells showed prominent epithelioid and/or rhabdoid features, had marked cytologic atypia and grew in multinodular or diffuse patterns. In 2 cases of proximal-type ES studied, the "rhabdoid" tumor cells demonstrated a diffuse sheet-like growth pattern, mimicking malignant rhabdoid tumor. Immunohistochemical study showed that vimentin was positive in all cases. Pan-cytokeratin, CK8, CK7, epithelial membrane antigen and CD34 were expressed in 16, 15, 1, 18 and 13 cases, respectively. The staining for S-100 protein was focal and weak in 5 cases. None of the cases studied expressed CD31 and HMB45. Loss of INI1 was demonstrated in 10 of the 13 classic ES cases and 5 of the 7 proximal-type ES cases. The mutation of INI1 gene was detected in 1 of the 6 cases. Deletion of INI1 gene including heterozygous deletion, homozygous deletion and haploid was observed in 8 of the 11 cases.. Owing to the histologic heterogeneity, pitfalls in diagnosis of ES sometimes are encountered. INI1 is lost in most cases of ES. Immunohistochemical study, including staining for INI1, provides useful clues in pathologic diagnosis. Instead of INI1 mutation, inactivation of INI1 gene related deletion is not uncommon.

Topics: Adolescent; Adult; Aged; Antigens, CD34; Chromosomal Proteins, Non-Histone; DNA-Binding Proteins; Female; Gene Deletion; Humans; Immunophenotyping; In Situ Hybridization, Fluorescence; Keratins; Male; Middle Aged; Mucin-1; Mutation; Rhabdoid Tumor; Sarcoma; SMARCB1 Protein; Transcription Factors; Young Adult

The author presents a unique case of multiple cytokeratin-negative malignant tumors consisting only of rhabdoid cells in the renal pelvis. A 54-year-old man complained of hematuria. A transurethral endoscopic examination revealed multiple papillary tumors, and transurethral resection of the bladder tumors was performed. Pathologically, they were ordinary papillary urothelial transitional cell carcinomas. Imaging modalities revealed multiple tumors of the right renal pelvis, and nephrectomy was performed. Grossly, three polypoid tumors measuring 2-4 cm were present in the pelvis. Histologically, they were composed only of malignant cells with rhabdoid features. There were no elements of transitional cell carcinoma. Immunohistochemically, the pelvic tumors were positive for vimentin and Ki-67 antigen (labeling=40%). They were negative for pancytokeratins (AE1/3, CAM5.2, KL-1 and polyclonal wide), 34βE12, cytokeratin (CK) 5/6, CK7, CK8, CK14, CK18, CK19, CK20, melanosome, EMA, CEA, desmin, S100 protein, α-smooth muscle actin, myoglobin, myogenin, CD34, p53 protein, p63, CD3, CD20, CD30, CD45, CD45RO, chromograin, synaptophysin, CD56, CD68, and KIT. NSE and PDGFRA were focally present, but this appeared nonspecific. Namely, the pelvic tumors expressed only vimentin. The author speculates that the pelvic multiple malignant "rhabdoid" tumors are not sarcomas but urothelial "rhabdoid" carcinoma with complete loss of CKs.

Topics: Biomarkers, Tumor; Diagnosis, Differential; Humans; Keratins; Kidney Neoplasms; Male; Middle Aged; Nephrectomy; Rhabdoid Tumor; Sarcoma; Treatment Outcome; Urothelium; Vimentin

Topics: Bile Duct Neoplasms; Bile Ducts, Intrahepatic; Cholangiocarcinoma; Chromosomal Proteins, Non-Histone; Diagnosis, Differential; DNA-Binding Proteins; Humans; Keratins; Liver Neoplasms; Magnetic Resonance Imaging; Male; Middle Aged; Rhabdoid Tumor; SMARCB1 Protein; Transcription Factors; Tumor Suppressor Proteins; Vimentin

To study the clinicopathologic features, immunohistochemical findings, diagnosis and differential diagnosis of atypical teratoid/rhabdoid tumors (AT/RT) of central nervous system in childhood.. The clinicopathologic data, morphologic features and immunophenotypes were reviewed in 6 cases of AT/RT. EnVision method was applied. Antibodies include cytokeratin (CK), epithelial membrane antigen (EMA), vimentin, smooth muscle actin (SMA), muscle specific actin (MSA), glial fibrinary acid protein (GFAP), desmin, placental alkaline phosphatase (PLAP) and INI1.. Five of the six cases of AT/RT occurred in infancy and early childhood. Histologically, the predominant component was rhabdoid cells. Cytoplasmic inclusions were present in all cases. Primitive neuroectodermal tumor (PNET) component was also identified in 5 of the 6 cases studied. Immunohistochemically, the tumor cells were positive for cytokeratin, epithelial membrane antigen and vimentin. The staining for INI1, desmin and PLAP was negative. Smooth muscle actin was expressed in 2 cases and glial fibrillary acidic protein in 5 cases. The proliferative index as demonstrated by Ki-67 staining was high.. AT/RT is not a particularly uncommon malignancy in childhood. The histologic hallmark is the presence of rhabdoid cells with cytoplasmic inclusions. The tumor cells are positive for cytokeratin, epithelial membrane antigen and vimentin, and negative for INI1. Differential diagnosis includes PNET, medulloblastoma and medullomyoblastoma.

Topics: Brain Neoplasms; Child, Preschool; Diagnosis, Differential; Female; Humans; Infant; Keratins; Male; Medulloblastoma; Mucin-1; Neuroectodermal Tumors, Primitive; Rhabdoid Tumor; Teratoma; Vimentin

To analyse the cytomorphologic spectrum of Wilms tumour (WT) on aspirates, the largest series reported to date.. Adequate aspirates from paediatric renal tumours over a period of 17 years were reviewed and selected if subsequent excision showed WT or aspirates were diagnostic for WT and clinical/radiological evidence consistent with that diagnosis. Smears were re-examined for the proportion of components, degree of pleomorphism and mitosis.. Of 110 aspirates, smears were triphasic in 44 (40.0%), biphasic (blastema and tubules) in 36 (32.7%) and monophasic (blastema alone) in 30 (27.3%). Stromal predominance was seen in 11 aspirates (10.0%) and five showed rhabdomyoblastic differentiation; all 11 were triphasic. Mean mitotic rate was 9.3/5000 cells (range 4-39/5000). Nuclear atypia not amounting to anaplasia and without atypical mitoses was seen in 15 (13.6%); these presented diagnostic problems. Two aspirates (1.8%) were considered anaplastic (unfavourable), both having atypical mitoses. Criteria similar to histology (i.e. 3-fold or more variation in nuclear size, marked hyperchromasia with bizarre nuclei and atypical mitoses in a biphasic or triphasic aspirate) helped in distinguishing anaplastic WT. Histopathological correlation in 67 cases showed good correlation of blastemal predominance, stromal predominance and anaplastic histology with the corresponding cytology. However, 9/27 (33.3%) triphasic tumours had only blastemal cells on corresponding aspiration because of sampling error. Cytokeratin was positive in 4 of 20 aspirates with blastema alone.. Aspirates from WT were triphasic or biphasic in the majority (72.7%), permitting cytological diagnosis, which was improved by cytokeratin immunocytochemistry. Blastemal and stromal predominance on histology correlated well with cytology, but many triphasic tumours showed only blastema on aspiration. Anaplastic WT can be detected on aspirates using criteria similar to histology.

Topics: 12E7 Antigen; Adolescent; Anaplasia; Antigens, CD; Biopsy, Fine-Needle; Carcinoma, Renal Cell; Cell Adhesion Molecules; Cell Differentiation; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; Diagnosis, Differential; DNA-Binding Proteins; Female; Follow-Up Studies; Humans; Infant; Keratins; Kidney; Kidney Neoplasms; Male; Peptide Fragments; Rhabdoid Tumor; SMARCB1 Protein; Staining and Labeling; Synaptophysin; Transcription Factors; Wilms Tumor; WT1 Proteins

Malignant rhabdoid tumors (MRTs) are aggressive childhood neoplasms, occurring mainly in the kidney and brain. We describe 2 unusual cases of extrarenal and noncranial location (liver and soft tissue with dissemination) mimicking hepatoblastoma, neuroblastoma or Ewing sarcoma. Both cases revealed a polyphenotypic profile, combined with cytokeratin, vimentin, and CD99 expression. INI1/BAF-47 showed negative protein nuclear expression in both cases, suggesting a diagnosis of MRT. An extensive immunohistochemical panel was performed to exclude pediatric tumors reminiscent of MRT. The genetic studies failed to detected MYCN amplification, 11q23 deletion, and EWS break-apart positivity. No alterations of 22q integrity were demonstrated with the probes used for the study (N25 Di George/22q11.2, 22qter, and EWS/22q12). We discuss the differential diagnosis in pediatric polyphenotypic tumors (Wilms tumor, neuroblastoma, desmoplastic small round cell tumor, and Ewing sarcoma). Analysis of INI1/BAF-47 expression can offer important clues in the diagnosis of pediatric tumors with rhabdoid phenotype. The integration of clinical, morphologic, immunohistochemical, and genetic data is required to approach a correct diagnosis of pediatric tumor in unusual location with atypical or undifferentiated morphology.

Topics: 12E7 Antigen; Antigens, CD; Antineoplastic Combined Chemotherapy Protocols; Cell Adhesion Molecules; Chromosomal Proteins, Non-Histone; Chromosome Aberrations; Diagnosis, Differential; DNA-Binding Proteins; Drug Resistance, Neoplasm; Fatal Outcome; Female; Humans; Immunohistochemistry; Infant; Infant, Newborn; Keratins; Liver Neoplasms; N-Myc Proto-Oncogene Protein; Neoplasms, Multiple Primary; Nuclear Proteins; Oncogene Proteins; Rhabdoid Tumor; RNA-Binding Protein EWS; Skin Neoplasms; SMARCB1 Protein; Transcription Factors; Vimentin

Topics: Adult; Diagnosis, Differential; Female; Humans; Keratins; Lymphatic Metastasis; Mucin-1; Rectal Neoplasms; Rhabdoid Tumor; Sarcoma; Synaptophysin; Vimentin; Young Adult

Atypical teratoid/rhabdoid tumor (AT/RT) is a rare aggressive infantile neoplasm of uncertain origin. This study was performed to assess the clinicopathologic and immunohistochemical features of four AT/RT cases.. Two cases were male and two were female, and their ages ranged from 8 to 103 months. Tumors were located in the cerebellum (two cases), frontoparietal lobe (one case), and third ventricle (one case). Histopathologically, the tumors were composed of rhabdoid cells and undifferentiated small cells mixed with epithelial or mesenchymal components. However, one of the tumors was composed predominantly of a mesenchymal component mimicking a sarcoma. Immunohistochemically, vimentin (4/4), epithelial membrane antigen (4/4), cytokeratin (3/4), smooth muscle actin (4/4), glial fibrillary acidic protein (4/4), S-100 (4/4), and synaptophysin (1/4) were positive in varying proportions, while desmin and INI-1 were negative in all the cases. All of the patients died within a mean of 14 months due to tumor progression despite the chemotherapy. Only one of our patients lived for 40 months after the diagnosis. In conclusion, AT/RTs are aggressive tumors. They can occur in a variety of locations, such as the third ventricle. Morphologically, a large spectrum can be seen, like predominantly sarcoma in appearance, but immunohistochemistry is helpful in the correct diagnosis.

Topics: Actins; Brain; Brain Chemistry; Brain Neoplasms; Child; Child, Preschool; Chromosomal Proteins, Non-Histone; Desmin; Diagnosis, Differential; DNA-Binding Proteins; Female; Glial Fibrillary Acidic Protein; Humans; Immunohistochemistry; Infant; Keratins; Male; Mucin-1; Rhabdoid Tumor; S100 Proteins; SMARCB1 Protein; Synaptophysin; Teratoma; Transcription Factors; Vimentin

We report the detailed molecular study of angiogenesis-ralated genes and target therapy of the case of a male 46-year-old patient with extrarenal rhabdoid tumor of pelvic retroperitoneum. The patient was found to have a huge pelvic soft tissue sarcoma and underwent pelvic tumorectomy and appendectomy. The microscopically morphological features and molecular profile by immunohistochemical analysis supported the surgical histological diagnosis of extrarenal rhabdoid tumor. The tumor recurred two weeks after surgery and metastasized to the lung, left abdominal wall and mesenteric lymph nodes. Systemic chemotherapy including ifosfamide, liposomal doxorubicin, Taxol and cisplatin, concurrently with pelvic radiotherapy (58 Gy of total dose). However, the patient did not respond to the combination of chemotherapy and radiotherapy. Immunohistochemical staining and fluorescence in situ hybridization of tumor cells indicated negative expression of human epidermal growth factor receptor-2 (HER-2) and epidermal growth factor receptor (EGFR) and positive expression of vascular endothelial growth factor (VEGF) and vascular endothelial growth factor receptor (VEGFR). So anti-VEGF targeted therapy (Bevacizumab) was administered following the fourth course chemotherapy. However, the condition worsened after the administration of the second cycle of Bevacizumab. Multiple organ failure led to the death of the patient. The patient only survived five months and 20 days after the surgery of the primary tumor.

Topics: Diagnosis, Differential; Fatal Outcome; Humans; Immunohistochemistry; Keratins; Male; Middle Aged; Neovascularization, Pathologic; Retroperitoneal Neoplasms; Rhabdoid Tumor; S100 Proteins; Salvage Therapy; Vimentin

Topics: Anion Exchange Protein 1, Erythrocyte; Biomarkers; Carcinoembryonic Antigen; Carcinoma, Medullary; Carcinoma, Transitional Cell; Child; Diagnosis, Differential; Female; Humans; Keratins; Kidney Neoplasms; Kidney Tubules, Collecting; Mucin-1; Nephrectomy; Rhabdoid Tumor; Vimentin

Rhabdoid tumours (RTs) are rare but highly aggressive tumours of childhood. Their rarity and their miscellaneous locations make the diagnosis particularly challenging for pathologists. Central nervous system and peripheral RTs have been associated with biallelic inactivation of the hSNF5/INI1/SMARCB1 (hSNF5/INI1) tumour suppressor gene. Immunohistochemistry (IHC) with a monoclonal anti-hSNF5/INI1 antibody has recently been proposed as an efficient diagnostic tool for RTs. We have conducted a retrospective study of 55 tumours referred to our institution with a suspicion of RT. This analysis included pathological review, IHC with anti-hSNF5/INI1 antibody, and molecular investigation using quantitative DNA fluorescent analysis and sequencing of the nine exons of hSNF5/INI1. The molecular lesion could be detected in 37 of the 39 cases exhibiting negative staining for hSNF5/INI1. In the two discrepant cases, the lack of detection of genetic abnormality was probably owing to the presence of a high number of non-tumour cells in the samples. This indicates that hSNF5/INI1 IHC is very sensitive and highly specific for the detection of hSNF5/INI1 loss-of-function. Among the 38 cases with typical RT histological features, six failed to exhibit hSNF5/INI1 mutation and stained positive for hSNF5/INI1. This strongly supports the evidence of a second genetic locus, distinct from hSNF5/INI1, associated with RT. Conversely, seven tumours with histological features poorly compatible with RT stained negative for hSNF5/INI1; they nevertheless exhibited an age of onset and a clinical behaviour similar to RT. This suggests that hSNF5/INI1 inactivation is not strictly limited to typical RT but characterizes a wider family of hSNF5/INI1-deficient tumours. Consequently, we believe that anti-hSNF5/INI1 IHC should be performed widely, even when the pathological characteristics are not typical. The molecular investigation should be performed in infants when a rhabdoid predisposition syndrome is suspected.

Topics: Adult; Biomarkers, Tumor; Carcinoma; Child, Preschool; Choroid Plexus Neoplasms; Chromosomal Proteins, Non-Histone; DNA Mutational Analysis; DNA-Binding Proteins; Female; Gene Deletion; Genetic Markers; Humans; Immunohistochemistry; In Situ Hybridization, Fluorescence; Infant; Keratins; Kidney Neoplasms; Male; Point Mutation; Retrospective Studies; Rhabdoid Tumor; SMARCB1 Protein; Transcription Factors; Vimentin

We describe 12 cases of leiomyoma with intracytoplasmic inclusion bodies, which were detected in a group of 447 leiomyomas examined at our institution between December 2005 and March 2006. Ten of these tumors were typical leiomyomas, and two cases represented atypical (bizarre) leiomyoma. In some cases, the presence of intracytoplasmic inclusion bodies resulted in a rhabdoid or skeletal muscle-like appearance of the tumor cells. Ultrastructurally, there were two types of inclusions. One of them consisted of an abnormal aggregation of intermediate and actin filaments. Another type of inclusions was composed of dense granular material without an apparent fibrillar structure. The ultrastructure of the inclusions correlates with immunohistochemical and histochemical stainings. The inclusions with apparent fibrillar arrangements were PAS negative, stained red by trichrome, and were, at least at the periphery, actin-, desmin-, and h-caldesmon-positive. The dense granular inclusions were at least focally PAS-positive, stained red by trichrome, and were negative immunohistochemically. The intracytoplasmic inclusions were found in atypical (bizarre) leiomyomas of the uterus and occasionally in epithelioid leiomyomas and leiomyosarcomas. However, to the best of our knowledge, these inclusions have not been found in typical uterine leiomyomas to date.

Topics: Actins; Adult; Aged; Azo Compounds; Biomarkers; Calmodulin-Binding Proteins; Desmin; Diagnosis, Differential; Eosine Yellowish-(YS); Female; Humans; Immunohistochemistry; Inclusion Bodies; Keratins; Leiomyoma; Methyl Green; Middle Aged; MyoD Protein; Myogenin; Periodic Acid-Schiff Reaction; Rhabdoid Tumor; Uterine Neoplasms; Vimentin

To study the clinicopathologic features and biologic behavior of renal cell carcinoma (RCC) with rhabdoid features.. Ten cases of RCC with rhabdoid features collected during the period from 1995 to 2005 were enrolled into the study. The clinical findings were analyzed and the hematoxylin and eosin-stained sections were reviewed. Immunohistochemistry and electron microscopy were also performed.. The age of patients ranged from 33 to 69 years (mean age = 52 years). Nine of the patients were males and 1 female. Five patients showed evidence of perinephric invasion. Two patients presented with regional lymph node metastases and 1 patient showed distant metastasis to the lung. Histologically, the rhabdoid foci were characterized by loosely cohesive trabeculae, acini, lobules and clusters of rhabdoid cells in otherwise clear cell RCC (9 cases) or papillary RCC (1 case). The rhabdoid cells were round to polygonal in shape and contained globular eosinophilic inclusion bodies in the cytoplasm, eccentric nuclei, vesicular chromatin pattern and prominent nucleoli. Coagulative tumor necrosis was commonly seen. Immunohistochemical study showed that the rhabdoid cells were diffusely positive for CD10 (10/10), cytokeratin AE1/AE3 (10/10), epithelial membrane antigen (10/10) and vimentin (10/10). Focal staining for neuron-specific enolase and S-100 protein was also noted. They were negative for CK7, CK20 and myogenic markers (including myogenin, smooth muscle actin and muscle-specific actin). The mean Ki-67 labeling index of the rhabdoid component was higher than that of the non-rhabdoid component (P < 0.05). Follow-up information was available in 8 patients. While 6 patients are still alive without recurrence, 2 patients died of the disease 6 and 29 months respectively after the operation.. RCC with rhabdoid elements are mainly observed in clear cell RCC and need to be distinguished from oncocytic renal tumors and malignant rhabdoid tumor of kidney. The higher proliferative activity in the rhabdoid areas may indicate more aggressive biologic behavior.

Topics: Adult; Aged; Carcinoma, Renal Cell; Carcinoma, Transitional Cell; Diagnosis, Differential; Female; Follow-Up Studies; Humans; Immunohistochemistry; Keratins; Kidney Neoplasms; Lymphatic Metastasis; Male; Middle Aged; Mucin-1; Nephrectomy; Neprilysin; Rhabdoid Tumor; Vimentin

Colorectal adenocarcinoma with rhabdoid phenotype is extremely rare, and only 1 case of adenocarcinoma showing rhabdoid dedifferentiation has been reported. The authors present another case of cecal adenocarcinoma with prominent rhabdoid feature in a 66-year-old man. The 13-cm sized tumor consisted mainly of rhabdoid cells and partly of adenocarcinoma, and transition from adenocarcinoma to rhabdoid areas was noted. Ultrastructural analysis revealed intracytoplasmic aggregates of intermediate filaments in the rhabdoid cells. Adenocarcinoma cells were diffusely immunoreactive to cytokeratin 7 and AE1/3, but occasionally positive for vimentin. The rhabdoid cells were negative for cytokeratin 7, weakly/focally immunoreactive to AE1/3, and diffusely positive for vimentin. These results suggested that the rhabdoid cells were dedifferentiated adenocarcinoma. Analysis of the rhabdoid cells with molecular techniques is also presented.

Topics: Adaptor Proteins, Signal Transducing; Adenocarcinoma; Aged; Biomarkers, Tumor; Cecal Neoplasms; Cell Nucleus; Fatal Outcome; Genes, ras; Humans; Immunohistochemistry; Intermediate Filaments; Keratins; Lymph Nodes; Male; Microscopy, Electron, Transmission; MutL Protein Homolog 1; Nuclear Proteins; Rhabdoid Tumor; Vimentin

Mesotheliomas with rhabdoid morphology are rare and only two individual case reports have been documented in the literature. This author reports a series of 10 cases of mesotheliomas with rhabdoid features, nine of which originated in the pleura and one in the peritoneum. Eight of the patients were men and two were women. Six patients had a history of asbestos exposure. Histologically, seven of the mesotheliomas were epithelioid, two sarcomatoid, and one biphasic. The proportion of the rhabdoid cells seen in these cases constituted 15-75% of the individual tumors. Cytoplasmic staining in the rhabdoid cells was seen for pan-keratin and vimentin in all 10 cases, for keratin 7 in eight of eight, for calretinin in nine of 10, and for keratin 5/6 in seven of nine. Nuclear positivity for WT1 was observed in the rhabdoid cells of four of seven cases and membranous reactivity for mesothelin in four of six, and for podoplanin in two of six. Only one case showed desmin positivity in sparse cells in the nonrhabdoid component of the tumor. All of the cases were negative for CEA, MOC-31, TAG-72, CD15, CD34, bcl2, muscle-specific actin, and TTF-1. Ultrastructural studies revealed paranuclear collections of intermediate filaments, but no evidence of rhabdomyoblastic differentiation was seen. The mean survival of five of the six patients for whom this information was available was 3.8 months. The remaining patient had a survival time of 1 year. It is important for pathologists to be aware that mesotheliomas can present rhabdoid features, not only because they can be confused with other malignancies that can exhibit a similar morphology, but also because of their apparently unusually aggressive behavior. The value of immunohistochemistry and electron microscopy in the differential diagnosis of these tumors is discussed.

Topics: Aged; Calbindin 2; Diagnosis, Differential; Female; Humans; Immunohistochemistry; Keratin-7; Keratins; Male; Mesothelioma; Microscopy, Electron; Middle Aged; Pleural Neoplasms; Rhabdoid Tumor; S100 Calcium Binding Protein G; Survival Analysis; Vimentin

We report the case of an 8-year-old child, presenting a rhabdoid tumor of the liver with spontaneous rupture, revealed by an intra-abdominal bleeding with rapidly fatal course. This clinical and pathological report raises the problem of the differential diagnosis of primary malignant hepatic tumors of the child with no alpha-foetoprotein increase.

Topics: Cell Division; Child; Diagnosis, Differential; Humans; Immunohistochemistry; Keratins; Liver Neoplasms; Male; Rhabdoid Tumor; Rupture, Spontaneous

Malignant rhabdoid tumor (MRT) is a rare and aggressive tumor associated with deletion or mutation of a tumor suppressor gene SMARCB1/INI1, a member of the SWI/SNF chromatin-remodeling complex. Reported herein is a case of pancreatic mucinous carcinoma accompanying rhabdoid features with immunohistochemical and ultrastructural studies as well as analysis of the SMARCB1/INI1 gene. A 65-year-old woman presented with a 2 month history of abdominal and chest pain. A well-defined grayish tan fish-flesh mass (11 x 9 x 7 cm) with focal mucinous area was present in the pancreatic tail. Microscopically, the tumor had a biphasic growth pattern: a mucinous carcinoma component and a poorly differentiated carcinoma component with rhabdoid features showing loosely cohesive cells with abundant eosinophilic cytoplasm, displaced nuclei, and prominent nucleoli. The rhabdoid component coexpressed vimentin and cytokeratin. Sequencing analysis of the DNA extracted from the mucinous and rhabdoid components showed a missense mutation CCC to ACC in codon 116 of the SMARCB1/INI1 gene. Being aware of rhabdoid features would help diagnose this rare and aggressive malignant tumor and may provide an opportunity for further evaluation of SMARCB1/INI1 gene alteration and determination of its prognostic significance.

Topics: Adenocarcinoma, Mucinous; Aged; Biomarkers, Tumor; Chromosomal Proteins, Non-Histone; DNA Mutational Analysis; DNA-Binding Proteins; Fatal Outcome; Female; Humans; Keratins; Mutation, Missense; Neoplasm Metastasis; Pancreatectomy; Pancreatic Neoplasms; Radiotherapy, Adjuvant; Rhabdoid Tumor; Sequence Analysis, DNA; SMARCB1 Protein; Transcription Factors; Vimentin

To study the clinicopathologic features and differential diagnosis of atypical teratoid/rhabdoid tumor (AT/RT) occurring in the central nervous system.. Two cases of AT/RT were studied by hematoxylin-eosin, reticulin and immunohistochemical staining. The clinical and pathologic features were analyzed and the literatures reviewed.. Histologically, AT/RT was characterized by the presence of rhabdoid cells associated with various degrees of primitive neuroectodermal, epithelial or mesenchymal differentiation. Abundant reticulin fibers and a complex immunophenotype were observed. The tumor cells were positive for vimentin, CD99, epithelial membrane antigen, cytokeratin, glial fibrillary acidic protein, S-100 protein, neurofilament, desmin and smooth muscle actin. They were negative for synaptophysin, MyoD1, placental alkaline phosphatase and HMB45.. AT/RT is a highly malignant tumor occurring in the central nervous system. It manifests mainly in children and occasionally in adults. The tumor is characterized by a heterogeneous histologic and immunohistochemical phenotype. It needs to be distinguished from a number of central nervous system tumors, including medulloblastoma, primitive neuroectodermal tumor, germ cell neoplasm and rhabdoid meningioma.

Topics: 12E7 Antigen; Actins; Adult; Antigens, CD; Brain Neoplasms; Cell Adhesion Molecules; Child, Preschool; Desmin; Glial Fibrillary Acidic Protein; Humans; Immunohistochemistry; Keratins; Male; Mucin-1; Muscle, Smooth; Neurofilament Proteins; Rhabdoid Tumor; S100 Proteins; Teratoma; Vimentin

Rhabdoid tumor is a distinct entity reported in renal and extrarenal sites. Malignant tumors of various types may have rhabdoid phenotype. There are eight case reports of carcinomas of thyroid with rhabdoid phenotype. All of these cases, except two, have been reported in middle-aged women (42-72 yr) and have had an aggressive clinical course with death occurring within few months to 4 yr after diagnosis. We report a case of poorly differentiated carcinoma of the thyroid with rhabdoid phenotype in a 22-yr-old male. The rhabdoid cells were immunopositive for thyroid transcription factor-1, vimentin, epithelial membrane antigen, and focally for cytokeratin. Synaptophysin, chromogranin, thyroglobulin, carcinoembryonic antigen, smooth muscle actin, myogenin, and desmin were all negative. To the best of our knowledge this is the ninth case report of carcinoma of the thyroid with rhabdoid phenotype. This case, unlike the previous reported cases, has certain unusual features including presentation in a young male, the absence of either follicular/papillary differentiation, and immunohistochemical profile of the rhabdoid cells.

Topics: Adenocarcinoma; Adult; Biomarkers, Tumor; Fatal Outcome; Humans; Keratins; Male; Mucin-1; Nuclear Proteins; Rhabdoid Tumor; Thyroid Neoplasms; Thyroid Nuclear Factor 1; Transcription Factors; Vimentin

Malignant rhabdoid tumors (MRT) of the liver are rare. A few liver MRT cell lines have been established but none has been characterized in detail. Here we describe a new MRT cell line from the liver, which is designated MP-MRT-AN, and describe it in detail. Immunohistochemical assays detected the expression of vimentin and cytokeratin but they were negative for neurofilament, desmin, alpha-smooth muscle actin, alpha-sarcomeric actin, and smooth muscle myosin heavy chains SM1 and SM2. RT-PCR assays revealed that this cell line did not express smooth muscle myosin heavy chain isoforms or MyoD1. No aberration was identified in 22q by G-banded analysis; however, the hSNF5/INI1 gene, a suppressor gene of MRT that maps to 22q11.2, was homozygously deleted from exons 1 to 5 in this cell line. Furthermore, the expression of another tumor suppressor gene, p16 (CDKN2A), was not detected by RT-PCR. This raises the possibility that the aggressive phenotype of malignant rhabdoid tumors is caused by the loss of two or more tumor suppressor genes.

Topics: Animals; Cell Line, Tumor; Chromosomal Proteins, Non-Histone; Chromosome Banding; Chromosome Mapping; Chromosomes, Human, Pair 22; DNA-Binding Proteins; Female; Gene Deletion; Genes, p16; Genes, Tumor Suppressor; Homozygote; Humans; Immunohistochemistry; Infant; Keratins; Liver Neoplasms; Mice; Mice, Nude; Neoplasm Transplantation; Reverse Transcriptase Polymerase Chain Reaction; Rhabdoid Tumor; SMARCB1 Protein; Transcription Factors; Ultrasonography; Vimentin

A 50 year old woman presented with acute abdominal pain accompanied by nausea and vomiting and was found to have a mass in the head of the pancreas by imaging. The clinical impression was of a pancreatic carcinoma and a Whipple's procedure was performed. Microscopic examination of the tumour showed it to be a low grade neuroendocrine carcinoma arranged in a tubuloacinar or tubulopapillary pattern, and composed of cells harbouring very prominent intracytoplasmic inclusions. These inclusions varied in appearance from being pale pink and hyaline in quality to more eosinophilic and globular causing displacement of the nucleus. Ultrastructural examination showed typical paranuclear aggregates of intermediate filaments. Inclusions of this type have been described previously as "signet ring like" and "rhabdoid". It was felt that the inclusions more closely resemble the fibrous bodies that are seen in pituitary adenomas. In addition, it is suggested that both signet ring and rhabdoid are not appropriate because they do not reflect histogenesis and are not necessarily reflective of tumour biology. It is suggested that the term "cytokeratin aggresomes" should be used to describe this distinctive phenotype.

Topics: Carcinoma, Neuroendocrine; Cytoplasm; Female; Humans; Keratins; Middle Aged; Pancreatic Neoplasms; Rhabdoid Tumor; Terminology as Topic

We report the case of a sarcomatoid carcinoma with a rhabdoid tumor component originating in the gallbladder, along with immunohistochemical and electron microscopic findings. A 61-year-old woman presented with a 5-month history of right upper quadrant pain. Ultrasonography and a computed tomographic scan indicated gallbladder cancer. She underwent a cholecystectomy and a common bile duct resection. A firm mass (4.5 cm in greatest dimension) was present in the neck portion of the gallbladder. The mass was firm, solid, yellowish gray, and granular with areas of necrosis. Microscopically, the tumor was a biphasic sarcomatoid carcinoma and consisted of diffusely arranged pleomorphic cells, focally showing rhabdoid features and neoplastic glands with focal mucin production. Heterologous components such as osteoid, chondroid, and rhabdomyoblastic elements were not identified. By immunohistochemical staining, we demonstrated that the rhabdoid cells coexpressed cytokeratin and vimentin. On electron microscopic examination, the rhabdoid tumor cells showed cytoplasmic whorls of intermediate filaments in the cytoplasm and eccentric nuclei. Two months postoperatively, the follow-up computed tomographic scan showed multiple intrahepatic metastases and omental seedings.

Topics: Carcinosarcoma; Female; Gallbladder Neoplasms; Humans; Immunohistochemistry; Keratins; Middle Aged; Rhabdoid Tumor; Vimentin

The rhabdoid cell, which is typically observed in malignant rhabdoid tumor (MRT) and other malignant neoplasms, has an eosinophilic cytoplasm containing a spheroid perinuclear inclusion body. This distinct cell is known to act as a highly aggressive indicator in many types of malignant tumors and is characterized by aggregates of intermediate filaments, comprising both vimentin and cytokeratin (CK) 8, which is mainly expressed in simple-type epithelium such as liver and intestine. To clarify the cause of the inclusion body formation, we analyzed the alteration of the complete human CK8 gene (KRT 8: 1724 base pairs) in seven samples of MRT (three from frozen materials and four from cultured cell lines) by reverse-transcriptase polymerase chain reaction, followed by direct sequencing. In addition, the two cell lines, Huh7 and HeLa, which lacked rhabdoid feature, six pediatric malignant tumors, including three cases of primitive neuroectodermal tumor (PNET) and three of Wilms' tumor; and 15 normal liver tissue (as a control) were also analyzed. All MRT samples had missense mutations in the human KRT 8 gene, i.e., Arg89 --> Cys (5/7); Arg --> Cys251 (3/7); Glu267 --> Lys (6/7); Ser290 --> Ile, Met; (7/7) and Arg301 --> His(4/7), none of which was detected in any control samples. Among these mutations, the most noteworthy findings were that Arg89 belongs to the H1 subdomain of the head domain and that Arg251 belongs to the short nonhelical linker segment, or L1-2. Both these mutations are noted for their relationships to lateral protofilament-protofilament interactions. In addition, Ser290 has been previously reported to be a phosphorylation site, which has been recognized to play an important role in filament organization, leading to conformational change of the CK8 filaments. In conclusion, mutated codons of CK8 gene in MRT were located in the important region involved in the conformational change of intermediate filament.

Topics: Amino Acid Sequence; Base Sequence; DNA Mutational Analysis; DNA, Complementary; Female; HeLa Cells; Humans; Immunohistochemistry; Inclusion Bodies; Infant; Keratins; Male; Microscopy, Electron; Molecular Sequence Data; Mutation; Mutation, Missense; Rhabdoid Tumor; Sequence Homology, Amino Acid; Sequence Homology, Nucleic Acid; Tumor Cells, Cultured

We determined the clinicopathological features of primary lung carcinomas with rhabdoid cells by defining the immunophenotype of rhabdoid cells and analysing survival.. Rhabdoid cells are distinctive in having an eccentric nucleus and a large intracytoplasmic inclusion on routinely stained sections. Based on the number of rhabdoid cells, 45 cases of large cell carcinoma were divided into the following three types: lung tumour with a rhabdoid phenotype (LTRP) (n=4), lung carcinoma with a small number of rhabdoid cells (LCSR) (n=10), large cell carcinoma containing no rhabdoid cells (LCNR) (n=31). LTRP is composed of at least 10% rhabdoid cells. In LCSR the percentage of rhabdoid cells is less than 10%. LTRP and LCSR are associated with locally advanced disease. Immunohistochemical stains were positive for epithelial markers in all LTRP and eight LCSR, for neuroendocrine markers in one LTRP and three LCSR. The outcome is worse for patients with LTRP than LCSR or LCNR. LCSR shows a trend close to LCNR. Stage-matched survival analysis, however, revealed no statistically significant difference among the histological subtypes.. Rhabdoid cells are heterogeneous except for epithelial markers and vimentin positivity. Less than 5% of rhabdoid cells has a negligible effect on prognosis.

Topics: Adult; Aged; Female; Humans; Immunohistochemistry; Keratins; Lung Neoplasms; Male; Microscopy, Electron; Middle Aged; Mucin-1; Neoplasm Staging; Phosphopyruvate Hydratase; Rhabdoid Tumor; Survival Analysis; Vimentin

Extrarenal malignant rhabdoid tumor (MRT), which is recognized as being histologically similar to renal MRT, is characterized by the presence of "rhabdoid cell" (RC) and a highly aggressive biological behavior. Recently it has been proposed that "proximal variant" of epithelioid sarcoma (ES), whose morphology is similar to that of MRT, actually has a more aggressive clinical course than classical type ES. Detailed immunohistochemical analysis of cytokeratin (CK) subunits was performed in 3 cases of extrarenal MRT, 3 cases of renal MRT, and 11 cases of ES comprising 2 "proximal variants" and 9 classical types. Renal and extrarenal MRTs showed positive immunoreactivity for both CK8 and CK18. Classical type ESs were diffusely positive, not only for CK8 and CK18, but also for other cytokeratin subunits including CK4, 6, 10, 13, 16, 17, and "high-molecular-weight" CKs (CK1, 5, 10, and 14). On the other hand, proximal ES revealed limited immunohistochemical reactivity for cytokeratins, compared with classical ES. In conclusion, the inclusion bodies of RCs show immunoreactivity confined to CK8, CK18, and vimentin. Furthermore, ES has additional CK expressions, while proximal ES possesses characteristics intermediate between those of classical ES and those of external MRT.

Topics: Adult; Aged; Child; Child, Preschool; Female; Humans; Immunoenzyme Techniques; Inclusion Bodies; Infant; Intermediate Filaments; Keratins; Kidney Neoplasms; Male; Middle Aged; Rhabdoid Tumor; Sarcoma; Soft Tissue Neoplasms; Survival Analysis

Malignant rhabdoid tumor (MRT) in the neck region is very rare. We report a case of MRT in a 60-year-old woman who had a history of papillary carcinoma of the thyroid gland 7 years previously. One year before admission, in 1995, thyroid carcinoma recurred, and the tumor contained a small undifferentiated region with rhabdoid features. The tumor in 1996 consisted of round to oval rhabdoid cells with abundant cytoplasm, and the growth pattern was diffuse and infiltrative, with no papillary structures. We therefore concluded that the lesion was MRT, transformed from papillary thyroid carcinoma.

Topics: Aged; Carcinoma, Papillary; Cytoplasm; Female; Humans; Keratins; Microscopy, Electron; Neoplasm Invasiveness; Neoplasm Recurrence, Local; Neoplasms, Second Primary; Phosphopyruvate Hydratase; Rhabdoid Tumor; Submandibular Gland Neoplasms; Thyroid Neoplasms; Vimentin

Malignant rhabdoid tumor (MRT) is a highly aggressive neoplasm that mostly occurs in childhood, characterized histologically by rhabdoid cells as shown by eosinophilic intracytoplasmic inclusions. Although it is known that rhabdoid cells co-express cytokeratin (CK) and vimentin, the distribution patterns of these two kinds of intermediate filaments and structural relationship between them are still not known. We investigated the subcellular distribution of CKs 8 and 18 and vimentin in MRT cell lines (Tm87-16, STM91-01, TTC549, and TC289) using confocal laser scanning microscopy and double immunofluorescence, in addition to ultrastructural examination. Vimentin was diffusely expressed in the cytoplasm of MRT cells, focally forming a filamentous network. In contrast, CKs 8 and 18 were partially expressed in the cytoplasm of MRT cells, forming globules or a few vague agglomerates. Three-dimensional images in TC289 cells revealed distinct distribution patterns of cytokeratin and vimentin, showing agglomerates of cytokeratins within the vimentin filament network. We conclude that these globules and agglomerates of CKs 8 and 18 correspond with the characteristic ultrastructural finding, showing cytoplasmic bundles of intermediate filaments concentrated in whorled arrays.

Topics: Female; Flow Cytometry; Fluorescent Antibody Technique; Humans; Infant; Keratins; Male; Microscopy, Confocal; Microscopy, Electron; Rhabdoid Tumor; Tumor Cells, Cultured; Vimentin

Atypical teratoma/rhabdoid tumor (AT/RT) of the central nervous system is a highly malignant neoplasm in infants and early childhood. Approximately one third of patients develop intracranial dissemination with involvement of cerebral spinal fluid (CSF). The clinical, radiological, and pathological features have been described, but cytology of the tumor cells in CSF has not. Multiple CSF samples were examined in a case of AT/RT in a 2-yr-old girl. The most consistent cytologic features of AT/RT are the large size of the tumor cells, eccentricity of the nuclei, and prominent nucleoli. The differential diagnosis includes medulloblastoma/primitive neuroectodermal tumor (PNET) of the brain. Because AT/RT often contains PNET-like regions, the differential diagnosis mainly relies on the presence or absence of large rhabdoid tumor cells. Cytological examination of CSF from a patient with AT/RT is important in the early diagnosis, disease progression analysis, and therapy modulation.

Topics: Brain; Brain Chemistry; Brain Neoplasms; Child, Preschool; Female; Humans; Immunohistochemistry; Keratins; Ki-67 Antigen; Mucin-1; Rhabdoid Tumor; Teratoma

A case of carcinosarcoma of the urinary bladder in a 2-year-old girl is reported. The tumor, measuring 34 x 20 x 18 mm, was located in the peri-trigone area of the urinary bladder with polypoid features. Histologic examination revealed transitional cell carcinoma at the tumor surface with downward invasion. Concurrently, a sarcomatous area was found beneath the carcinoma, with these two different malignant components sharing on apparent transition without distinct boundaries. Sarcomatous components included immature round cells focally showing rhabdoid features. No rhabdomyomatous component was observed. Immunohistochemistry disclosed vimentin and cytokeratin-double positive cells at the transposition between carcinoma and sarcomatous components. In addition, ultrastructural analysis revealed that the epithelial cells had a distinct junctional complex, and the sarcomatous cells occasionally had a meshwork of cytoplasmic intermediate filaments, indicating bidirectional cytodifferentiation to epithelial and mesenchymal elements. The extremely young age at which this case of carcinosarcoma occurred suggests that the tumor may be of mesodermal stem cell origin.

Topics: Carcinosarcoma; Child, Preschool; Female; Humans; Immunohistochemistry; Keratins; Mesoderm; Microscopy, Electron; Mucin-1; Phosphopyruvate Hydratase; Rhabdoid Tumor; S100 Proteins; Stem Cells; Urinary Bladder Neoplasms; Vimentin

A malignant rhabdoid tumour was diagnosed in the orbit of a 2-year-old Thoroughbred filly. The neoplasm, which was very aggressive, was present in nearly every part of the ocular and periocular structures and had spread to the lymph nodes of the head and neck, the salivary glands and the subcutaneous tissues around the eye. The neoplasm was composed of polygonal cells with abundant eosinophilic cytoplasm. Many cells had a large, vesiculate, indented nucleus and contained a paranuclear globular inclusion. Ultrastructurally, the inclusions were seen to consist of whorls of intermediate filaments. The neoplastic cells were immunoreactive to vimentin and cytokeratin antisera, but were negative for desmin and actin.

Topics: Animals; Female; Horse Diseases; Horses; Immunohistochemistry; Keratins; Lymphatic Metastasis; Orbital Neoplasms; Rhabdoid Tumor; Vimentin

The poor prognosis of malignant rhabdoid tumor is emphasized and histopathological criteria for distinction from epithelial sarcoma of the vulva are discussed. Immunohistochemical analyses were performed by using nine different antigens including vimentin, cytokeratin, epithelial membrane antigen, carcinoembryonic antigen, desmin, muscle-specific actin, S-100 protein, AP-15, neuron specific enolase. This is the sixth reported case of a malignant rhabdoid tumor of the vulva. The patient died eight months after the initial diagnosis in spite of a combination of surgery, adjuvant chemotherapy and external radiotherapy.

Topics: Adult; Biomarkers, Tumor; Fatal Outcome; Female; Humans; Immunohistochemistry; Keratins; Lung Neoplasms; Lymphatic Metastasis; Neoplasm Recurrence, Local; Rhabdoid Tumor; Skin Neoplasms; Vimentin; Vulvar Neoplasms

Among 474 cases of gastric carcinoma studied in gastrectomy specimens from 1990 to 1996, only one (0.21%) showed positivity for vimentin. It was located on a gastric stump and, endoscopically, the tumor was classified as early gastric carcinoma type IIb + IIc. Histologically, tumor cells were extensively round to polygonal and had eosinophilic, or clear cytoplasm; the nuclei were large with conspicuous nucleoli. In some areas, the cytoplasm showed vimentin and(or cytokeratin coexpression by double immunostaining. Our results and the patient's rapid deterioration (death occurred six months after surgery) suggest that this type of tumor, although diagnosed as early carcinoma, behaved like an advanced malignancy.

Topics: Biomarkers, Tumor; Carcinoma; Cell Separation; DNA, Neoplasm; Fatal Outcome; Flow Cytometry; Gastrectomy; Gastric Stump; Humans; Inclusion Bodies; Keratins; Male; Middle Aged; Organelles; Ploidies; Rhabdoid Tumor; Stomach Neoplasms; Vimentin

We describe the case of a 73-year-old patient with gastric adenocarcinoma composed of histologically well differentiated glandular areas, extensive rhabdoid zones and regions depicting a transition between these two constituents. The rhabdoid component showed typical features such as abundant eosinophilic cytoplasm, eccentric nuclei, prominent nucleoli, intense positive immunohistochemical cytoplasmic reaction for vimentin and less evident immunohistochemical for cytokeratin and epithelial membrane antigen (EMA). Our findings strongly suggest that the rhabdoid areas probably represent a phenotypic variant of a gastric adenocarcinoma, otherwise fairly well differentiated, a combination that to the best of our knowledge has not been previously reported.

Topics: Actins; Adenocarcinoma; Aged; Carcinoembryonic Antigen; Cell Transformation, Neoplastic; Desmin; Female; Humans; Immunohistochemistry; Keratins; Mucin-1; Rhabdoid Tumor; Stomach Neoplasms; Vimentin

A 66-year-old woman developed a malignant rhabdoid tumor of the breast, with a tumor doubling time of 10 days. One month after radical mastectomy, there was local recurrence, followed by multiple pulmonary metastases, and the patient died of respiratory failure 5 months after surgery. The gray-white-colored tumor measured 13 x 12 x 10 cm, and its border was well defined. The tumor was composed of diffusely growing round or polygonal cells with vesicular nuclei, prominent nucleoli, and ample cytoplasm containing eosinophilic inclusions. Lymph node involvement was widespread. Both vimentin and keratin were clearly demonstrated by immunohistochemical staining. Ultrastructural studies revealed that the MRT cells contained cytoplasmic whorls of intermediate filaments.

Topics: Aged; Breast Neoplasms; Cytoplasm; Female; Humans; Immunohistochemistry; Intermediate Filaments; Keratins; Mastectomy, Radical; Rhabdoid Tumor; Vimentin

A five-month-old male baby presented with an abdominal mass which was found on computerised tomography (CT) to be involving the left kidney. Nephrectomy and histopathological study showed morphological featues of a malignant rhabdoid tumour. The tumour cells stained strongly for cytokeratin and epithelial membrane antigen and less intensely for vimentin. Electron microscopy revealed concentric whorled arrays of intermediate filaments within the tumour cell cytoplasm. The child was put on post-operative chemotherapy and radiotherapy but developed bilateral lung metastases and died three months after surgery.

Topics: Biomarkers, Tumor; Cell Transformation, Neoplastic; Fatal Outcome; Humans; Immunoenzyme Techniques; Infant; Keratins; Kidney Glomerulus; Kidney Neoplasms; Male; Mucin-1; Rhabdoid Tumor; Vimentin

We report on a primary cutaneous rhabdoid tumour in a 14-month-old child, to the best of our knowledge, the second case in the literature. The tumour showed a multipolypoid gross appearance and classical histological features. The neoplastic cells were positive for keratin and vimentin and most were positive for proliferating cell nuclear antigen. The ultrastructural examination revealed typical intracytoplasmic aggregates of intermediate filaments. The tumour showed a very aggressive course, and the child died 5 months after the diagnosis of cerebral metastasis.

Topics: Brain Neoplasms; Cell Nucleolus; Cell Nucleus; Cytoplasm; Fatal Outcome; Humans; Hyalin; Immunohistochemistry; Inclusion Bodies; Infant; Intermediate Filaments; Keratins; Male; Organelles; Rhabdoid Tumor; Skin Neoplasms; Vimentin

Rhabdoid tumours (RT) are highly aggressive neoplasms most often occurring in kidneys of children. Few cases of extrarenal RT have been reported among adults. This paper describes the first case of a RT in the kidney of an adult.

Topics: Actins; alpha 1-Antitrypsin; Desmin; Female; Humans; Immunohistochemistry; Keratins; Kidney Neoplasms; Middle Aged; Myoglobin; Rhabdoid Tumor; Vimentin