glycogen and Neuroectodermal-Tumors--Primitive--Peripheral

Extra-osseous Ewing sarcomas/peripheral primitive neuroectodermal tumors (EOES/pPNETs) are high-grade malignant tumors found in various organs, such as the lung, skin, intestine, kidney and female genital tract; however, to the best of our knowledge, only two cases have previously been identified in the thyroid gland. We describe a case of primary EOES/PNET of the thyroid gland in a 66-year-old man with a previous history of large B cell lymphoma. During a routine follow-up examination, the patient underwent an ultrasound cervical scan showing a solid nodule of the left thyroid lobe. The fine-needle aspiration biopsy of the nodule suggested a neuroendocrine tumor. Histological and immunohistochemical examination of the surgical specimen supported a diagnosis of EOES/PNET, which was further confirmed by the demonstration of EWSR1 gene translocation by means of fluorescent in situ hybridization and by the detection of glycogen particles and neurosecretory granules by means of electron microscopy. Total body computed tomography and magnetic resonance imaging excluded the involvement of other sites, and therefore a diagnosis of primary EOES/PNET of the thyroid gland was made.This paper also discusses the main differential diagnoses, including lymphoma recurrence, other small round cell tumors (primary or metastatic), and a thyroid localization of an EWS/PNET from another organ.

Topics: Aged; Biomarkers, Tumor; Biopsy, Needle; Calmodulin-Binding Proteins; Diagnosis, Differential; DNA, Neoplasm; Glycogen; Humans; In Situ Hybridization, Fluorescence; Incidental Findings; Lymph Nodes; Lymphoma, Large B-Cell, Diffuse; Male; Neoplasm Recurrence, Local; Neuroectodermal Tumors, Primitive, Peripheral; RNA-Binding Protein EWS; RNA-Binding Proteins; Sarcoma, Ewing; Secretory Vesicles; Thyroid Neoplasms; Translocation, Genetic

We report a case of Ewing sarcoma/peripheral primitive neuroectodermal tumor (ES/pPNET) arising in the vulva in a 17-year-old adolescent girl. Primary extraskeletal ES/pPNET is uncommon and only rarely affects the female genital tract. Characteristic histologic features of ES/pPNET were present in this case including a monomorphic population of small round blue cells with cytoplasmic glycogen confirmed by periodic acid-Schiff and were immunohistochemically positive for CD99 in a membranous and Fli-1 in a nuclear pattern. The presence of an EWS/Fli-1 fusion transcript was demonstrated by reverse transcription polymerase chain reaction and confirmed by direct sequencing. This report described another very rare case of ES/pPNET arising in the vulva and confirmed by molecular analysis.

Topics: Adolescent; Base Sequence; Biomarkers, Tumor; DNA, Neoplasm; Female; Glycogen; Humans; Molecular Sequence Data; Neoplasms, Multiple Primary; Neuroectodermal Tumors, Primitive, Peripheral; Oncogene Proteins, Fusion; Periodic Acid-Schiff Reaction; Proto-Oncogene Protein c-fli-1; RNA-Binding Protein EWS; Sarcoma, Ewing; Sequence Analysis, DNA; Transcription Factors; Vulvar Neoplasms

A peripheral primitive neuroectodermal tumor (pPNET), most consistent with a human Ewing's sarcoma, is described in a 5-month-old male Australian Shepherd puppy. The first tumor site detected was in the left frontal bone of the skull with apparent subsequent rapid metastases to multiple sites in the axial and appendicular skeleton and bone marrow, kidneys, and perihyphophyseal meninges. Radiographically, all bone lesions were lytic and there was also a humeral bone fracture. Histologically, the tumor was diagnosed as a small round blue cell tumor. At this stage, the differential diagnosis included a lymphoma, rhabdomyosarcoma, and a PNET of the peripheral nervous system. However, the cells had positive expression of triple neurofilament antigens as detected immunocytochemically. The cells were negative for a broad panel of canine-specific leucocyte cell marker antigens for desmin, smooth muscle actin, synaptophysin, and CD99. Ultrastructurally, the cells contained occasional dense core neurosecretory granules and intermediate filaments with intercellular desmosomal-like junctions and abundant glycogen clusters. Based on the age of the dog, the clinical history, the distribution of gross lesions, histologic characteristics of a small round blue cell tumor, and immunocytochemical and ultrastructural evidence of neuroectodermal differentiation, a diagnosis of a pPNET similar to a human Ewing's sarcoma was made.

Topics: Animals; Bone Marrow Neoplasms; Bone Neoplasms; Desmosomes; Dog Diseases; Dogs; Glycogen; Immunohistochemistry; Intermediate Filaments; Kidney Neoplasms; Male; Meningeal Neoplasms; Neuroectodermal Tumors, Primitive, Peripheral; Neurofilament Proteins

Ewing's sarcoma (ES) of bone may occasionally display rosette-like textures mimicking Homer-Wright ones, as seen in neuroectodermic neoplasms (neuroblastoma, peripheral neuroepithelioma). Of a group of 39 cases of ES, reviewed with electron microscopic study, the authors have isolated five atypical ES, which histologically also possessed neuroectodermic traces. These tumors were composed of small round blue cells with rosette-like figures and cytoplasmic glycogen. The immunohistochemical analysis showed positivity for neuron-specific enolase (NSE) as well as for HNK-1 (leu-7) monoclonal antibody. Electron microscopic examination confirmed the tumor cell as being of small round type, with a dense chromatine pattern and the presence of isolated dendritic processes, as well as synaptic-like buttons; intermediate filaments, neurotubuli, and dense-core neurosecretory granules also were seen. Moreover, in two cases basement-like condensations surrounded some cells. Scanning electron microscopic study in one case confirmed the presence of rosette-like figures and cell elongations with short dendritic projections of the cytoplasm. Clinically and radiologically these cases showed features similar to ES of bone; one case, located in the chest wall, had a local relapse after treatment, with the histologic features of a pleomorphic neuroblastoma. The authors conclude that these tumors resemble closely immature neuroepithelioma of soft tissue but, being primary to bone, are superimposable on those described as "neuroectodermal tumors of bone."

Topics: Antibodies, Monoclonal; Antigens, Differentiation, T-Lymphocyte; Antigens, Surface; Bone Neoplasms; Glycogen; Histocytochemistry; Immunologic Techniques; Microscopy, Electron; Microscopy, Electron, Scanning; Neuroblastoma; Neuroectodermal Tumors, Primitive, Peripheral; Peripheral Nervous System Neoplasms; Phosphopyruvate Hydratase; Sarcoma, Ewing

Four small round cell malignant tumors of bone occurring in children are described. There was no catecholamine secretion and the clinical, radiologic, and biopsy diagnosis in each was Ewing's sarcoma. Glycogen was sparse both on imprints and in tissue sections. The tumors, when extensively sampled, had areas of a lobular growth pattern and Homer Wright rosettes. The rosettes were always focal and varied in complexity from case to case; they were rudimentary in one instance and markedly fibrillar in the most obvious instance. Neuron-specific enolase was demonstrated in tissue sections and in longterm cell cultures from three of the tumors. The cultured cells put out moderately long beaded processes in serum-free medium but had no catecholamine fluorescence. Electron microscopy of the tumor rosettes and the cultured cells showed processes containing aggregates of microtubules and only one case had rare neurosecretory granules. This study suggests that some small round cell tumors of bone and soft tissue in children, which present as Ewing's sarcoma, are neuroectodermal in nature.

Topics: Bone Neoplasms; Calcaneus; Child; Child, Preschool; Female; Femoral Neoplasms; Glycogen; Humans; Male; Microscopy, Electron; Neuroblastoma; Neuroectodermal Tumors, Primitive, Peripheral; Phosphopyruvate Hydratase; Rosette Formation; Sarcoma, Ewing; Scapula; Staining and Labeling

Topics: Acid Phosphatase; Adenosine Triphosphate; Adult; Alkaline Phosphatase; Brain; Brain Neoplasms; Esterases; Female; Fructose-Bisphosphate Aldolase; Glucosephosphate Dehydrogenase; Glucuronidase; Glutamates; Glycerophosphates; Glycogen; Histocytochemistry; Humans; Lactates; Lipid Metabolism; Malates; Neoplasm Metastasis; Neuroectodermal Tumors, Primitive, Peripheral; Succinate Dehydrogenase