Research Papers:

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

Marta Brunetti, Ludmila Gorunova, Ben Davidson, Sverre Heim, Ioannis Panagopoulos and Francesca Micci _

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Oncotarget. 2018; 9:19203-19208. https://doi.org/10.18632/oncotarget.24969

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Marta Brunetti1, Ludmila Gorunova1, Ben Davidson2,3, Sverre Heim1,3, Ioannis Panagopoulos1 and Francesca Micci1

1Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

2Department of Pathology, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway

3Institute of Clinical Medicine, Faculty of Medicine, University of Oslo, Oslo, Norway

Correspondence to:

Francesca Micci, email: [email protected]

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

Received: February 13, 2018     Accepted: March 16, 2018     Published: April 10, 2018


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.

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