Identification of anEPC2-PHF1fusion transcript in low-grade endometrial stromal sarcoma

// Marta Brunetti 1 , Ludmila Gorunova 1 , Ben Davidson 2, 3 , Sverre Heim 1, 3 , Ioannis Panagopoulos 1 and Francesca Micci 1 1 Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway 2 Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway 3 Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway Correspondence to: Francesca Micci, email: francesca.micci@labmed.uio.no Keywords: fusion gene; EPC2; PHF1; RNA sequencing; low-grade endometrial stromal sarcoma Received: February 13, 2018 Accepted: March 16, 2018 Published: April 10, 2018 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.