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Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma
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Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma
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Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma
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Journal Article
Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma
2019
Overview
Molecular diagnostics of sarcoma subtypes commonly involve the identification of characteristic oncogenic fusions.
EWSR1-PATZ1
is a rare fusion partnering in sarcoma, with few cases reported in the literature. In the current study, a series of 11 cases of
EWSR1-PATZ1
fusion positive malignancies are described.
EWSR1-PATZ1
-related sarcomas occur across a wide age range and have a strong predilection for chest wall primary site. Secondary driver mutations in cell-cycle genes, and in particular
CDKN2A
(71%), are common in
EWSR1-PATZ1
sarcomas in this series. In a subset of cases, an extended clinical and histopathological review was performed, as was confirmation and characterization of the fusion breakpoint revealing a novel intronic pseudoexon sequence insertion. Unified by a shared gene fusion,
EWSR1-PATZ1
sarcomas otherwise appear to exhibit divergent morphology, a polyphenotypic immunoprofile, and variable clinical behavior posing challenges for precise classification.
Publisher
Nature Publishing Group US,Elsevier Limited
Subject
/ 631/337
/ Adult
/ Brain Neoplasms - classification
/ Child
/ Female
/ Humans
/ Kruppel-Like Transcription Factors - genetics
/ Male
/ Medicine
/ Oncogene Proteins, Fusion - genetics
/ Repressor Proteins - genetics
/ RNA-Binding Protein EWS - genetics
/ Sarcoma
/ Soft Tissue Neoplasms - classification
/ Soft Tissue Neoplasms - genetics
