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)

Previous work has shown that proteins phosphorylated on tyrosine are selectively detectable by antibodies against phosphotyrosine (P-Tyr) in cells transformed by retroviral class-1 oncogene-encoded kinases endowed with non-regulated activity (Di Renzo et al., 1986). In this work P-Tyr antibodies were used to investigate the existence of human tumors expressing abnormal levels of tyrosine phosphoproteins and tyrosine kinases. Among 18 cell lines examined, the antibodies identified a number of tumors with a detectable level of proteins phosphorylated on tyrosine. Among these were a major protein with an approximate Mr of 150,000 in a gastric carcinoma; 2 proteins, with Mr of 130,000 and 110,000 in a colon carcinoma; a major protein with Mr of 170,000, tyrosine phosphorylated in both a urinary bladder and an epidermoid carcinoma; a 100,000 Mr protein phosphorylated in lung and breast carcinomas. An 80,000 Mr tyrosine phosphorylated protein was found in a fibrosarcoma and in a rhabdomyosarcoma. Among the hemopoietic malignancies screened, in 2 Philadelphia-positive chronic myelogenous leukemias P-Tyr antibodies recognized the chimeric bcr-abl 210,000 Mr protein and its substrates. Two tyrosine phosphorylated proteins, one of Mr 70,000 and one of Mr 60,000, were detected in a Burkitt lymphoma line. These phosphoproteins were not found in samples harvested from normal gastro-intestinal or urinary bladder epithelium, nor in control fibroblasts and lymphocytes. Two of the above proteins have associated tyrosine kinase activity: the 170,000 Mr protein of bladder carcinoma cells was found to be a constitutively phosphorylated EGF receptor.
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PMID:Proteins phosphorylated on tyrosine as markers of human tumor cell lines. 243 63

Malignant rhabdoid tumor of the kidney (MRTK) is a highly aggressive tumor which occurs in childhood and which is histologically characterized by the existence of eosinophilic intracytoplasmic inclusions. We established and characterized a cell line from this tumor with histological, immunohistochemical and cytogenetical analysis. Histologically, the tumor cells demonstrate typical eosinophilic inclusions, while immunohistochemically the cells demonstrate common mesenchymal and epithelial differentiation. Although the conventional karyotyping of this tumor lacked the abnormalities of 22q chromosome, Southern blot analysis and microsatellite analysis verified abnormalities of the BCR gene and of the hSNF5/INI1 gene. Despite the variety of locations, these common genetic abnormalities appear to contribute to distinguish rhabdoid tumor from such other small round cell tumors as primitive neuroectodermal tumor, rhabdomyosarcoma, poorly differentiated synovial sarcoma and desmoplastic small round cell tumor.
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PMID:Establishment and characterization of malignant rhabdoid tumor of the kidney. 1111 67

Composite extrarenal rhabdoid tumors (CERTs) represent a diverse group of neoplasms with rhabdoid shape in combination with one of several distinctive tumor types. Like the classic renal and extrarenal malignant rhabdoid tumor (MRT), as well as the atypical teratoid/rhabdoid tumor (AT/RT) of the central nervous system, CERTs typically show aggressive clinical behavior. Deletions and mutations of the INII gene on 22q11.2 have been identified in most classic MRTs and AT/RTs; however, it is not known whether the rhabdoid components in CERTs have similar genetic abnormalities. Using fluorescence in situ hybridization (FISH) on archival, paraffin-embedded tissue with a commercially available probe in close proximity to the INII locus (bcr), as well as other chromosome 22 probes, we studied 4 cases of MRT, 13 of AT/RT, and 16 of CERT (3 melanoma, 4 meningioma, 7 carcinoma, 1 rhabdomyosarcoma, and 1 neuroblastoma). Deletion of the 22q11.2 locus was demonstrated in 10 (77%) of 13 AT/RTs and 3 (75%) of 4 MRT, including 1 congenital MRT. Of the 16 CERTs, only 2 (a rhabdoid meningioma and a carcinoma with rhabdoid features; 13%) harbored a deletion at this locus. This difference was statistically significant (P <.001). We conclude that deletion of 22q11.2, typical of most classic MRTs and AT/RTs, is infrequently seen in CERTs. This suggests that the rhabdoid component of CERTs does not evolve by way of the genetic alteration characteristic of MRTs or AT/RTs, but represents instead a distinct phenotype shared by a number of tumors as they undergo anaplastic progression.
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PMID:Chromosome 22q dosage in composite extrarenal rhabdoid tumors: clonal evolution or a phenotypic mimic? 1167 45