Genomic profiling of BCOR-rearranged uterine sarcomas reveals novel gene fusion partners, frequent CDK4 amplification and CDKN2A loss

Gynecologic Oncology
Douglas I LinJulia A Elvin

Abstract

Genomic alterations of BCOR via ZC3H7B-BCOR fusion or BCOR internal tandem duplication (ITD) define a subset of endometrial stromal sarcoma (ESS). The goals of this study were to: 1) determine the molecular landscape of BCOR-rearranged ESS, 2) to identify novel BCOR fusion gene partners in ESS and their associated clinicopathological characteristics, and 3) to potentially unravel targetable genomic alterations in BCOR-mutated ESS. A retrospective database search of a CLIA-certified molecular laboratory was performed for uterine sarcomas that contained BCOR rearrangements or BCOR ITD. The cases were previously assayed by comprehensive genomic profiling via both DNA- and RNA-based targeted next generation sequencing during the course of clinical care. Clinicopathological and genomic data was centrally re-reviewed. We identify largest cohort of BCOR-rearranged ESS to date (n = 40), which included 31 cases with canonical ZC3H7B-BCOR fusion as well as 8 cases with novel BCOR gene rearrangement partners, such as BCOR-L3MBTL2, EP300-BCOR, BCOR-NUTM2G, BCOR-RALGPS1, BCOR-MAP7D2, RGAG1-BCOR, ING3-BCOR, BCOR-NUGGC, KMT2D-BCOR, CREBBP-BCOR and 1 case with BCOR internal rearrangement. Re-review of cases with novel rearrangements demonstrat...Continue Reading

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Jun 14, 2019·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Douglas I LinJulia A Elvin

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Citations

Jun 5, 2020·Acta Neuropathologica Communications·David J PisapiaJuan Miguel Mosquera
Oct 26, 2020·Genes, Chromosomes & Cancer·Francesca MicciIoannis Panagopoulos
Feb 13, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Yu-Chien KaoCristina R Antonescu
Apr 4, 2021·Diagnostics·Iolia AkaevSiavash Rahimi
Dec 17, 2020·Seminars in Diagnostic Pathology·Jennifer A Bennett, Esther Oliva
May 20, 2021·Current Opinion in Oncology·Brunhilde Hanvic, Isabelle Ray-Coquard
Jul 25, 2021·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Douglas I LinJulia A Elvin
Aug 1, 2021·Virchows Archiv : an International Journal of Pathology·Mauro VasellaBeata Bode-Lesniewska
Aug 28, 2021·Biomedicines·Siddh van OostNoel F C C de Miranda
Aug 21, 2021·Journal of Zhejiang University. Science. B·Chunhui Li, Chunhong Wang
Sep 1, 2021·Annals of Diagnostic Pathology·Tiane ChenJulie C Fanburg-Smith

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