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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Veröffentlicht in: | Modern pathology 2019-11, Vol.32 (11), p.1593-1604 |
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Hauptverfasser: | , , , , , , , , , |
Format: | Artikel |
Sprache: | eng |
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Zusammenfassung: | 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. |
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ISSN: | 0893-3952 1530-0285 |
DOI: | 10.1038/s41379-019-0301-1 |