Clinical, pathological, and genomic features of EWSR1-PATZ1 fusion sarcoma

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...

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Bibliographic Details
Published in:Modern pathology 2019-11, Vol.32 (11), p.1593-1604
Main Authors: Bridge, Julia A., Sumegi, Janos, Druta, Mihaela, Bui, Marilyn M., Henderson-Jackson, Evita, Linos, Konstantinos, Baker, Michael, Walko, Christine M., Millis, Sherri, Brohl, Andrew S.
Format: Article
Language:English
Subjects:
45
631/337
631/67/1798
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Adolescent
Adult
Aged, 80 and over
Brain Neoplasms - classification
Brain Neoplasms - genetics
Brain Neoplasms - pathology
Child
Female
FLI-1 protein
Gene fusion
Humans
Kruppel-Like Transcription Factors - genetics
Laboratory Medicine
Male
Medicine
Medicine & Public Health
Middle Aged
Oncogene Proteins, Fusion - genetics
Pathology
Repressor Proteins - genetics
RNA-Binding Protein EWS - genetics
Sarcoma
Sarcoma - classification
Sarcoma - genetics
Sarcoma - pathology
Soft Tissue Neoplasms - classification
Soft Tissue Neoplasms - genetics
Soft Tissue Neoplasms - pathology
Young Adult
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Summary: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.
ISSN:0893-3952
1530-0285
DOI:10.1038/s41379-019-0301-1