Clear cell sarcoma expressing a novel chimerical transcript EWSR1 exon 7/ATF1 exon 6

Abstract

Clear cell sarcoma harbours recurrent translocation, resulting in EWSR1/ATF1 or less commonly EWSR1/CREB1 fusion. To date, six types of EWSR1/ATF1 fusion have been reported, of which three are in-frame and encode functional proteins. We present a reverse transcription - polymerase chain reaction analysis of a tumour near the hallux of the right foot. The sequencing of obtained fragments revealed the presence of a novel chimerical transcript-the in-frame fusion between EWSR1 exon 7 and ATF1 exon 6 that represents the fourth in-frame type of EWSR1/ATF1 fusion identified in clear cell sarcomas.

Multiple metastases of clear cell sarcoma at diagnosis presented in bone marrow aspirate: A case report

“…Even functional landscape of CCS genome has been rendered by copy number observations in human tumors and genetic experiments in mice in a study 7 . Slight and focal positivity of S100 was observed in immunohistochemistry in this case, which was slightly different from the literature in which S100 reacted as strong positivity 3 . Noteworthily, CD117 negativity has been considered as an immunohistochemical feature that could differentiate CCS from MM, 9 which was also revealed as negative expression in our case.…”

“…6 Another chromosomal translocation [t (2;22) (q34; q12)] resulting in chimeric EWSR1/CREB1 gene fusion also drives sarcoma-genesis in CCS. 3,7 Recently, next-generation sequencing was performed to identify gene fusions with advantage of revealing chimerical types and fusion sites. 8 Even functional landscape of CCS genome has been rendered by copy number observations in human tumors and genetic experiments in mice in a study.…”

“…The most common sites of CCS are foot and ankle. Other involvement includes knee, thigh, hand, neck, trunk, and rarely, retroperitoneum and bone 3 . Herein, we present a rare and severe case of CCS simultaneously with bone and retroperitoneum metastases at the time of initial diagnosis in a previously healthy 15‐year‐old Chinese man.…”

The diversity of soft tissue tumours with EWSR1 gene rearrangements: a review

“…26,27 Fusion type is not related to behaviour. 174 Of EWSR1-ATF1 fusions, several different transcripts have been identified, 27,167,175,176 the most common of which fuses EWSR1 exon 8 and ATF1 exon 4. 27,53 In the resultant chimeric protein, the N-terminal domain of EWSR1 is linked to the basic leucine zipper (bZIP) domain of ATF1.…”

Activity of c-Met/ALK Inhibitor Crizotinib and Multi-Kinase VEGF Inhibitor Pazopanib in Metastatic Gastrointestinal Neuroectodermal Tumor Harboring EWSR1-CREB1 Fusion

“…However, CCSTA often shows positivity for melanocytic markers (HMB45, Melan-A, and Tyrosinase), whereas GNET is often negative for melanocytic markers and is positive for synaptophysin [5]. These tumors share common genetic alterations: chromosomal translocation events t(12;22)(q13;q12) and t(2;22)(q34;q12), leading to chimeric fusion proteins EWSR1-ATF1 and EWSR1-CREB1 , respectively [3, 6]. …”