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

Marta Brunetti; Ludmila Gorunova; Ben Davidson; Sverre Heim; Ioannis Panagopoulos; Francesca Micci

doi:10.18632/oncotarget.24969

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

Oncotarget. 2018 Apr 10;9(27):19203-19208. doi: 10.18632/oncotarget.24969.

Authors

Marta Brunetti¹, Ludmila Gorunova¹, Ben Davidson^{2

3}, Sverre Heim^{1

3}, Ioannis Panagopoulos¹, Francesca Micci¹

Affiliations

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.

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.

Keywords: EPC2; PHF1; RNA sequencing; fusion gene; low-grade endometrial stromal sarcoma.