exudates and Soft-Tissue-Neoplasms

Literature suggests that oncogenic osteomalacia is usually caused by a benign mesenchymal tumor secreting fibroblast growth factor subtype-23 (FGF-23), but the involvement of other phosphatonins has only been scarcely reported. We have previously published a seemingly typical case of oncogenic osteomalacia. Following curative neoplasm resection, we now report unique molecular characteristics and biology of this tumor.. A 25-year-old man had been diagnosed with severe oncogenic osteomalacia that gradually crippled him over 6 years. 68Ga-DOTA-TATE positron emission tomography/computed tomography scan localized the culprit tumor to his left sole, which on resection revealed a deep fibrous histiocytoma displaying a proliferation of spindle cells with storiform pattern associated with multinucleated giant cells resembling osteoclasts. Circulating FGF-23, which was elevated more than 2-fold, declined to undetectable levels 24 h after surgery. Microarray analysis revealed increased tumor gene expression of the phosphatonins FGF-23, matrix extracellular phosphoglycoprotein (MEPE) and secreted frizzled-related protein subtype 4, with elevated levels of all 3 proteins confirmed through immunoblot analysis. Differential expression of genes involved in bone formation and bone mineralization were further identified. The patient made an astonishing recovery from being wheelchair bound to fully self-ambulant 2 months postoperatively.. This report describes oncogenic osteomalacia due to a deep fibrous histiocytoma, which coincidentally has been found to induce profound muscle weakness via the overexpression of 3 phosphatonins, which resolved fully upon radical resection of the tumor. Additionally, genes involved in bone formation and bone remodeling contribute to the molecular signature of oncogenic osteomalacia.

Topics: Adult; Fibroblast Growth Factor-23; Fibroblast Growth Factors; Foot Diseases; Gene Expression Regulation, Neoplastic; Histiocytoma, Benign Fibrous; Humans; Malaysia; Male; Osteomalacia; Paraneoplastic Syndromes; Singapore; Soft Tissue Neoplasms

Soft tissue tumours are a group of remarkably diverse neoplasms that frequently pose significant diagnostic challenges to general pathologists. This study aimed to compare the agreement of histopathological diagnoses between general pathologists from various referral institutes and the referred soft tissue pathologist in a tertiary centre. The common discrepancies and their causes are also presented here. A retrospective study was conducted on 243 cases of potential soft tissue tumours referred to Hospital Kuala Lumpur, Malaysia over a period of 5 years. Reports by the referring pathologists and the soft tissue pathologist were compared based on tumour classification and tumour behaviour. Overall, there was moderate agreement in soft tissue tumour diagnoses in both tumour classification (weighted κ = 0.423) and tumour behavior (weighted κ = 0.548). The highest agreement of tumour classification was seen in the adipocytic tumours (21/28 cases), Ewing sarcoma (5/7 cases) and smooth-muscle tumours (3/5 cases). The highest rates of discrepancies were the so-called fibrohistiocytic tumours (7/11 cases), vascular tumours (9/15 cases) and undifferentiated/ unclassified sarcomas (19/32 cases). Full agreement for tumour behaviour was seen in 178 cases and there were 21 cases of zero agreement. Liposarcoma, alveolar soft part sarcoma and benign fibrous histiocytoma were the most frequent benign/malignant diagnostic discrepancies. The most common causes of discrepancy were wrong morphological interpretation followed by insufficient immunohistochemical stains performed. In conclusion, review of diagnosis by a pathologist specialized in soft tissue improves the quality of diagnosis in these heterogenous and rare tumours. A good panel of immunohistochemical stains with additional molecular study is crucial in the general hospital laboratories practice.

Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Malaysia; Male; Middle Aged; Reproducibility of Results; Retrospective Studies; Soft Tissue Neoplasms; Young Adult

Granular cell tumours (GrCTs) are uncommon soft tissue tumours that are usually benign (approximately 0.5%-2.0% have been reported as malignant). They are very rarely found at the extremities. Differentiating a malignant GrCT from a benign one is important as the former is aggressive and has a poor prognosis, whereas the latter, after surgical resection, has excellent outcomes. A malignant lesion can be suspected on clinical presentation and confirmed via histopathological examination using the Fanburg-Smith criteria.. This was a retrospective review of all cases of GrCT of the extremities that presented to the Orthopaedic Oncology Unit of University Malaya Medical Centre, Malaysia, from September 2006 to March 2013.. There were a total of five cases, all of which involved female patients aged 13-40 (mean age 24) years. Three cases involved the upper limbs and two involved the lower limbs. Using the Fanburg-Smith criteria, three cases were classified as benign, one as atypical and one as malignant. Wide local excision was performed in all five cases and the outcomes were excellent except for the patient with a malignant tumour. That patient presented with lung metastasis about three months after surgery.. Malignant and benign GrCTs can be differentiated on clinical presentation and by using the Fanburg-Smith criteria. We believe that wide local excision is the best treatment for both benign and malignant tumours. The role of adjuvant chemotherapy and radiotherapy in malignant GrCTs should be studied. All patients with GrCTs should receive follow-up to check for recurrence and metastasis.

Topics: Adolescent; Adult; Female; Granular Cell Tumor; Humans; Magnetic Resonance Imaging; Malaysia; Neoplasm Recurrence, Local; Prognosis; Retrospective Studies; Soft Tissue Neoplasms; Treatment Outcome; Young Adult

Although studies have shown that a large proportion of cancer patients use CAM, no study on CAM use amongst orthopaedic oncology patients has been published. Therefore, this study aims to determine the prevalence, characteristics and factors associated with CAM use amongst orthopaedic oncology patients.. All consecutive consenting patients/parents who presented at the Orthopaedic Oncology Clinic, University Malaya Medical Centre (1st January to 31st December 2013) were interviewed using a structured questionnaire.. Overall, one hundred sixty-eight of the 274 patients recruited (61.3%) had used CAM at some time during their current illness. The prevalence of CAM used was 68% (123/181) for patients with malignant tumours and 48.4% (45/93) for patients with benign tumours. The most popular CAMs were biological-based therapies (90.5%), followed by mind-body techniques (40.5%). The most frequently used biological therapies were mega/multivitamins (31%), snakehead (Chana striatus) (28%) and sea cucumber (Stichopus horrens) (18%); whereas prayers (31%) and holy water (13%) dominated the mind-body category. Common reasons for CAM use were to improve physical well-being (60.1%), try out everything that would help (59.5%) and to enhance wound-healing (39.3%). Independent predictors for CAM use in multivariate analysis were paediatric patients [OR 2.46; 95% CI 0.99-6.06; p = 0.05], malignant tumours [OR 1.90; 95% CI 1.12-3.25; p = 0.018] and patients who underwent surgery [OR 2.06; 95% CI 1.15-3.69; p = 0.015]. Majority patients started taking CAMs following suggestions from family members (53%) and friends (49%). Sixty-six percent of patients felt they actually benefitted from CAM and 83.3% were satisfied/very satisfied. Only 5 patients reported side-effects. Majority of CAM users planned to continue CAM use or recommend it to others. However, only 31.5% of patients disclosed their CAM usage to their doctors.. This survey revealed a high prevalence of CAM usage amongst orthopaedic oncology patients, with majority patients expressing satisfaction towards CAM. Oncologists should proactively ask patients about CAM to prevent potential adverse effects, as most patients do not share this information with them.

Topics: Adolescent; Adult; Aged; Bone Neoplasms; Complementary Therapies; Cross-Sectional Studies; Drug-Related Side Effects and Adverse Reactions; Female; Humans; Malaysia; Male; Middle Aged; Orthopedics; Prevalence; Prospective Studies; Soft Tissue Neoplasms; Surveys and Questionnaires; Young Adult

We report on a Malaysian kindred with Li-Fraumeni syndrome. The proband was an 8-year-old girl who presented with embryonal rhabdomyosarcoma of the trunk at the age of 8 months and developed a brain recurrence at the age of 7 years, which was 5 years after remission. A younger sister later developed adrenocortical carcinoma at the age of 6 months. Their mother and maternal grandmother were diagnosed with breast cancer at the ages of 26 and 38 years, respectively. TP53 mutation detection in this family revealed a duplication of a GGCGTG motif starting at nucleotide 17579 in exon 10, resulting in an in-frame insertion of two amino acids between residues 334 and 336 in the tetramerization domain of the p53 protein. This mutation was found in the proband and her affected sister as well as her mother. In addition, the mutation was detected in two other siblings (a brother aged 3 years and a sister aged 18 months) who have not yet developed any malignancy. Sequencing of TP53 in the father and two other asymptomatic siblings revealed wild-type TP53. To our knowledge, this is a first report of a Li-Fraumeni syndrome family in Southeast Asia.

Topics: Adrenal Cortex Neoplasms; Adult; Breast Neoplasms; Carcinoma; Child; Child, Preschool; DNA Mutational Analysis; Fatal Outcome; Female; Genes, p53; Humans; Infant; Li-Fraumeni Syndrome; Malaysia; Male; Mutagenesis, Insertional; Pedigree; Rhabdomyosarcoma, Embryonal; Soft Tissue Neoplasms

Topics: Child; Child, Preschool; Female; Humans; Infant; Malaysia; Male; Rhabdomyosarcoma; Soft Tissue Neoplasms