Currently, the EPS family is defined by the presence of specific translocations frequently involving the EWSR1
gene, which is fused to an E26 transformation-specific (ETS) family gene (FLI-1, ERG, or ETS variant 1 (ETV1)) .
(22q12) gene fusions have been detected in half of METs arising in deep soft tissues and in up to 70% cases of intraosseous MET [7, 10].
Caption: Figure 5: Cytogenetic study of BML and uterine leiomyoma of patient 2, using "Fluorescence In Situ Hybridization" (FISH), with probes LSI EWSR1
(22q12) Dual Color, Break Apart Rearrangement Probe, Abbott, and ZytoLight SPEC 19q13/19q13 Dual Color Probe, Zytovision.
The vast majority (88%) of the tumors has EWSR1
rearrangements detectable by fluorescent in situ hybridization (54).
The most common translocation is gene EWSR1
on chromosome 22q1.
For example, degrees of the drug targets PSMD1 and TOP2A are 33 which are less than normal proteins EWSR1
(135) and ATXN1 (171).
Biologically, Ewing sarcoma is characterized by recurrent balanced translocations involving the EWSR1
gene and a member of the ETS family of transcription factors, most commonly FLI-1 .
To exclude a metastatic melanoma, florescence in situ hybridization for EWSR1
(22q12) gene rearrangement was performed and the tumour was found to have a translocated EWRS1 locus.
Clinical, radiologic, pathologic, genetic features of PNET/EWS Clinical features Radiologic features PNET/EWS * Flank pain * Large size * Hematuria * Lack of extensive * Abdominal mass parenchyma infiltration * Weight loss * Lack of renal vein invasion * Diffuse large calcification * Internal hemorrhage and necrosis * Peripheral hypervascularity Pathologic features Genetic features PNET/EWS * Presence of * Glycoprotein p30/32 neurosecretory granules (monoclonal antibody) CD99 * Presence of rosettes (encoded by the MIC2 gene) (electron microscopy) or * Specific chromosomal pseudorosettes (light translocations t (11; 22) microscopy) (q24; q12); t (21; 22) * Neuron-specific enolase (q22; q12) EWSR1
gene * Chromogranin A rearrangement * Synaptophysin Table 4.
The breakpoint involves the EWSR1
gene on 22q12 and the TEC gene on 9q22.
DuBois, "Racial differences in the incidence of mesenchymal tumors associated with EWSR1
translocation," Cancer Epidemiology Biomarkers and Prevention, vol.
Paraffin sections analysed with Fluorescence In situ Hybridization (FISH) studies of the EWS gene showed a normal signal pattern (two yellow signals) with EWSR1
(Zymed laboratories locus 22q12/ q13) break apart probe in the majority of sites examined consistent with a normal result.