Undifferentiated Uterine Sarcomas Represent Under-Recognized High-grade Endometrial Stromal Sarcomas

The American Journal of Surgical Pathology
Paolo CotziaSarah Chiang

Abstract

Undifferentiated uterine sarcoma is a diagnosis of exclusion with limited molecular genetic data available. Recent recognition of high-grade endometrial stromal sarcomas with diverse genotypes suggests that some tumors classified as undifferentiated uterine sarcomas may represent misdiagnosed high-grade endometrial stromal sarcomas. Archival material from 10 tumors diagnosed as undifferentiated uterine sarcomas in 2009 to 2017 were collected. BCOR immunohistochemistry and fluorescence in situ hybridization (FISH) using break-apart probes flanking BCOR, ZC3H7B, CCNB3, YWHAE, NUTM2, JAZF1, and BCORL1 were performed. Tumors lacking or harboring gene rearrangement with no known fusion partner by FISH were subjected to targeted RNA sequencing. Morphology was correlated with FISH and sequencing results. BCOR expression was moderate to strong in ≥50% of cells in 8 tumors, while weak in <5% cells and negative in 2. FISH detected mutually exclusive ZC3H7B-BCOR and YWHAE-NUTM2 fusions in 3 uniform undifferentiated uterine sarcomas; 2 pleomorphic tumors harbored YWHAE rearrangement with no known partner. Targeted RNA sequencing of 5 FISH-negative uniform undifferentiated uterine sarcomas detected BRD8-PHF1 and YWHAE-NUTM2B fusions and BCO...Continue Reading

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Citations

May 1, 2020·The Journal of Pathology. Clinical Research·Felix Kf KommossChristian Koelsche
Feb 6, 2020·The American Journal of Surgical Pathology·Vidarshi MuthukumaranaSarah Chiang
Dec 18, 2019·Histopathology·Amir Momeni-Boroujeni, Sarah Chiang
Jan 30, 2020·Virchows Archiv : an International Journal of Pathology·Ben DavidsonSigurd F Lax
Apr 23, 2020·Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc·Youran ZouSarah Chiang
Sep 11, 2020·International Journal of Surgical Pathology·Michela LibertiniRobin L Jones
Jan 16, 2020·Virchows Archiv : an International Journal of Pathology·Ondrej OndičMichal Michal
Jun 23, 2020·The American Journal of Surgical Pathology·Jennifer A BennettEsther Oliva
Oct 26, 2020·Genes, Chromosomes & Cancer·Francesca MicciIoannis Panagopoulos
Sep 30, 2020·European Journal of Cancer : Official Journal for European Organization for Research and Treatment of Cancer (EORTC) [and] European Association for Cancer Research (EACR)·Gabriella FerrandinaDomenica Lorusso
Oct 30, 2020·Histopathology·Nissreen MohammadCheng-Han Lee
Nov 20, 2020·Clinical & Translational Oncology : Official Publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico·S CabreraA Gil-Moreno
Apr 4, 2021·Diagnostics·Iolia AkaevSiavash Rahimi
Dec 17, 2020·Seminars in Diagnostic Pathology·Jennifer A Bennett, Esther Oliva
Aug 21, 2021·Journal of the National Comprehensive Cancer Network : JNCCN·Nadeem R Abu-RustumAngela D Motter
Aug 21, 2021·Journal of Zhejiang University. Science. B·Chunhui Li, Chunhong Wang
Dec 28, 2021·Histopathology·Francois Le LoarerDaniel Pissaloux

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Methods Mentioned

BETA
PCR
SMA

Software Mentioned

ArcherDX
Archer
Isis

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