EWSR1

EWSR1

A gene on chromosome 22q12.2 that encodes a multifunctional protein involved in various processes, including gene expression, cell signalling, and RNA processing and transport.

Molecular pathology
EWSR1 mutations— the (11;22)(q24;q12) translocation—cause Ewing sarcoma, as well as neuroectodermal and various other tumours.
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Gastrointestinal clear cell sarcoma-like tumor is a very rare aggressive sarcoma that shares the same translocation involving EWSR1 in most cases with clear cell sarcoma of soft tissue (formerly known as malignant melanoma of soft parts).
The most common translocation is gene EWSR1 on chromosome 22q1.
Some studies have shown t (2; 8) (q35; q13) translocation, which involves PAX3, and t (4;22) (q35;q12), which involved EWSR1.
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.
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.
Myxoid/round cell liposarcomas are characterized by translocation t(12;16) (q13;p11) fusing genes FUS at 16p11 and CHOP at 12q13 or, rarely, translocation t(12;22) (p13;q12) fusing CHOP with EWSR1.
FISH analysis demonstrated EWSR1 gene rearrangement, thus confirming the diagnosis of Ewing sarcoma.
Structural variant detection was compared for 27 samples with known rearrangements as determined by reverse transcription-PCR (BCR-ABL1, PML-RARA), karyotype, or fluorescence in situ hybridization (ALK, EWSR1, FGFR1, FGFR3, FIP1L1-PDGFRA, FUS-ERG, IGH-MYC, IGH-BCL2, IGH-CCND1, and KMT2D).
Recently, it was discovered that most HCCCs have a recurrent chromosomal rearrangement leading to fusion of EWSR1 and ATF1, t(12;22)(q13;q12), but this rearrangement was not detected in myoepithelioma, PLGA, MEC, or EMCA.
55) Actually, up to 82% (18 of 22) of HCCCs show EWSR1 rearrangement.