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

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 fro...

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Autores principales: Brunetti, Marta, Gorunova, Ludmila, Davidson, Ben, Heim, Sverre, Panagopoulos, Ioannis, Micci, Francesca
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Impact Journals LLC 2018
Materias:
Research Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5922388/
https://www.ncbi.nlm.nih.gov/pubmed/29721194
http://dx.doi.org/10.18632/oncotarget.24969
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author Brunetti, Marta
Gorunova, Ludmila
Davidson, Ben
Heim, Sverre
Panagopoulos, Ioannis
Micci, Francesca
author_facet Brunetti, Marta
Gorunova, Ludmila
Davidson, Ben
Heim, Sverre
Panagopoulos, Ioannis
Micci, Francesca
author_sort Brunetti, Marta
collection PubMed
description 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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spelling pubmed-59223882018-05-02 Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma Brunetti, Marta Gorunova, Ludmila Davidson, Ben Heim, Sverre Panagopoulos, Ioannis Micci, Francesca Oncotarget Research Paper 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. Impact Journals LLC 2018-04-10 /pmc/articles/PMC5922388/ /pubmed/29721194 http://dx.doi.org/10.18632/oncotarget.24969 Text en Copyright: © 2018 Brunetti et al. http://creativecommons.org/licenses/by/3.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0/) 3.0 (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Research Paper
Brunetti, Marta
Gorunova, Ludmila
Davidson, Ben
Heim, Sverre
Panagopoulos, Ioannis
Micci, Francesca
Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title_full Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title_fullStr Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title_full_unstemmed Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title_short Identification of an EPC2-PHF1 fusion transcript in low-grade endometrial stromal sarcoma
title_sort identification of an epc2-phf1 fusion transcript in low-grade endometrial stromal sarcoma
topic Research Paper
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5922388/
https://www.ncbi.nlm.nih.gov/pubmed/29721194
http://dx.doi.org/10.18632/oncotarget.24969
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