Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0035412 (rhabdomyosarcoma)
 6,156 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

This is a clinicopathologic study of 17 cases of alveolar soft-part sarcoma of the orbit. The mean age of patients was 23 and the median was 18 (range, 11 months to 69 years); 13 patients (76.5 per cent) were women and four were men (ratio, 3.25:1). The right and left orbits were equally involved (eight patients each), and in one the laterality was not specified. Histologically, the tumors had a distinctive organoid pattern outlined by thin-walled capillaries and were composed of nests of large polyhedral cells with abundant, finely granular, acidophilic cytoplasm. Approximately two thirds of the tumors had diagnostic PAS-positive diastase-resistant crystalline structures. Histologically, the differential diagnosis included nonchromaffin paraganglioma, granular cell tumor, metastatic renal cell carcinoma, vascular tumor, alveolar rhabdomyosarcoma, and amelanotic malignant melanoma. Electron microscopic studies of one tumor disclosed mitochondria with abnormal cristae, increased amounts of glycogen, and cytoplasmic crystalline structures with a periodicity of 8 to 10 nm. Smaller membrane-bound electron-dense granules appeared to be precursors of the crystals. Follow-up studies showed that eight patients were alive and well (median follow-up period, 11.4 years). Six of the eight patients at the time of diagnosis were 20 years of age or younger. A ninth patient was alive and well 13 years after excision of the orbital mass and four years after bilateral thoracotomy with resection of nine pulmonary nodules. Two patients died as a result of metastatic disease, one 14 years and the other 21 years after initial orbital surgery. Two patients died of other causes, one of whom had pulmonary metastases at autopsy. The follow-up period on two recent cases was less than three years, and two patients were lost to follow-up. The disease pursued an indolent clinical course. Surgery offers the best chance to control the disease.
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PMID:Alveolar soft-part sarcoma of the orbit: a clinicopathologic analysis of seventeen cases and a review of the literature. 707 38

The study was performed to determine the frequency and origin for metastatic disease to the pancreas as found in an endoscopic ultrasound directed fine-needle aspiration series. The records of the Departments of Pathology at the University of Utah School of Medicine and the David Geffen School of Medicine were electronically searched for all fine-needle aspirates obtained from pancreatic masses between January 1, 2002 and March 31, 2010. All cases with a diagnosis of metastatic disease were reviewed and whenever possible correlated with subsequent resection specimens. A total of 17 metastatic malignancies to the pancreas were detected in pancreatic FNAs representing 0.73% of all cases. Primaries included eight renal cell carcinomas, one medullary carcinoma of the thyroid, four lymphomas, one alveolar rhabdomyosarcoma, one squamous cell carcinoma derived from the esophagus, and a second squamous cell carcinoma originating from a lung primary and a small cell carcinoma of the lung. Metastatic renal cell carcinoma was the most frequent metastasis to the pancreas representing 47% of metastatic lesions detected by FNA. The metastatic deposits could be detected in the pancreas as many as 10 years following the original diagnosis and resection of the renal cell carcinoma.
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PMID:Metastatic disease to the pancreas documented by endoscopic ultrasound guided fine-needle aspiration: a seven-year experience. 2233 24

Primary primitive neuroectodermal tumors (PNETs) of the kidney are quite rare and can be mistaken for a wide variety of other small round blue cell tumors which includes rhabdomyosarcoma, Wilm's tumor, carcinoid, neuroblastoma, clear cell sarcoma of the kidney, lymphoma etc. Renal Ewings/PNET can occur in the age group from 4 to 61 years. Approximately, 90% of Ewing sarcoma (ES)/PNET have a specific t(11;22) which results in a chimeric EWS-FLI-1 fusion protein. Immunohistochemical for the carboxy-terminus of FLI-1 is sensitive and highly specific for the diagnosis of ES/PNET. Herein, we have an interesting presentation in a 23-year-old male who came with neck pain and progressive quadriparesis and was diagnosed as a case of poorly differentiated malignant tumor with a differential of lymphoma versus metastatic renal cell carcinoma. The patient's condition deteriorated fast and he had a rapid downhill course. The final diagnosis of Ewings/PNET was confirmed at autopsy.
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PMID:Primary primitive neuroectodermal tumor of kidney: a rare case report with diagnostic challenge. 2494 71