Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q99581 (FEV)
 3,296 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Esthesioneuroblastoma (ENB) is a rare, site-specific, locally aggressive neuronal malignancy so far thought to belong to primitive peripheral neuroectodermal tumour-Ewing's tumour (pPNETs-ETs). Its anatomical location, in addition to morphologic, immunophenotypic and ultrastructural features, suggests its origin in the neuronal or neuroendocrine cells of the olfactory epithelium. However, the cytogenetic and molecular data currently available appear controversial on the presence of the typical translocation t(11;22)(q24;q12) and of trisomy 8, chromosomal changes that characterize the tumours belonging to the pPNETs-ETs. Herein we have analysed five ENB tumour specimens for trisomy 8 by fluorescence in situ hybridization (FISH), for the presence of EWS gene rearrangements by FISH, reverse transcription polymerase chain reaction and Southern blot analyses, as well as for the expression of the Ewing sarcoma-associated MIC2 antigen by immunohistochemistry. Neither EWS/FLI-I, EWS/ERG and EWS/FEV fusion genes nor MIC2 expression were found in any tumour, whereas trisomy 8 was found in one case only. Moreover, DNA from three cases analysed by Southern blot did not show EWS gene rearrangements. Our results support the evidence that ENB is not a member of the pPNETs-ETs.
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PMID:Esthesioneuroblastoma is not a member of the primitive peripheral neuroectodermal tumour-Ewing's group. 1057 42

Ewing tumors (ETs) are characterized by rearrangements of the EWS gene located in 22q12 and a high MIC2 expression. In 85% of ETs, the t(11;22)(q24;q12) generates chimeric fusion transcripts between the EWS and the FLI1 gene, whereas in the remaining cases the EWS gene is rearranged with different partners of the ETS oncogene family. Besides classical cytogenetic analysis, fluorescence in situ hybridization (FISH) and RT-PCR can be used to demonstrate these 22q12 rearrangements which are pathognomonic for ETs. To visualize 22q12 rearrangements in individual cells, DNA probes flanking the EWS-R1 breakpoint region on chromosome 22 can be hybridized in double-target FISH experiments on tumor cell preparations. Intact chromosomes 22 are indicated by juxtaposition of the DNA probes, whereas rearrangements of the EWS gene separate the hybridization signals. In addition to 22q12 rearrangements, numerical aberrations of chromosomes 8 and 12 can be observed in about 50% of ETs, deletions at the short arm of chromosome 1 and der (16)t(1;16)(q12;q11.2) chromosomes in about 20% of the cases. Numerical aberrations, deletions at 1p36.3, and the t(1;16) were detected by using double-target FISH on touch, cytospin, and chromosome preparations, on frozen and paraffin sections and isolated deparaffinized nuclei. So far, numerical aberrations of chromosomes 8 and 12 did not show prognostic impact. However, deletions at 1p36.3 and imbalances between the long and short arms of chromosome 1 were associated with adverse clinical outcome in a group of patients with localized disease. Copyright 2000 S. Karger GmbH, Freiburg
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PMID:Molecular Cytogenetics in Ewing Tumors: Diagnostic and Prognostic Information. 1144 Dec 35