Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma.

Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma. Oncotarget. 2018 Apr 10;9(27):19203-19208 Authors: Brunetti M, Gorunova L, Davidson B, Heim S, Panagopoulos I, Micci F Abstract Recurrent chromosomal translocations leading to gene fusion formation have been described in uterine sarcomas, including low-grade endometrial stromal sarcoma (LG-ESS). Involvement of the PHF1 gene in chromosomal rearrangements targeting band 6p21 has been found in LG-ESS with different partners from JAZF1 mapping in 7p15, to EPC1 from 10p11, MEAF6 from 1p34, and BRD8 from 5q31. In the present study, RNA sequencing of a LG-ESS showed a novel recombination of PHF1 with the Enhancer of Polycomb homolog 2 (EPC2). RT-PCR followed by Sanger sequencing and FISH analysis confirmed the EPC2-PHF1 fusion transcript. PMID: 29721194 [PubMed]

https://www.ncbi.nlm.nih.gov/pubmed/29721194?dopt=Abstract

Source: Oncotarget - May 5, 2018 Category: Cancer & Oncology Tags: Oncotarget Source Type: research