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09.05.2022 | Brief Report

Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period

verfasst von: Cécile Picard, Nicolas Macagno, Nadège Corradini, Perrine Marec-Bérard, Sara Cabet, Laurent Guibaud, Loic Viremouneix, Sébastien Raux, Franck Chotel, Nicolas Weinbreck, Alexandra Meurgey, Marie Karanian, Daniel Pissaloux, Frank Tirode, Frédérique Dijoud

Erschienen in: Virchows Archiv

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Abstract

Ewing sarcoma (ES) is a highly malignant round cell sarcoma, characterized by gene fusion involving FET (FUS, EWSR1, TAF15) and ETS family genes, respectively. The involvement of the EWSR1 gene has been reported in approximately 90% of cases of ES, with the EWSR1::FLI1 fusion being the most frequent. We report the case of a newborn with a localized soft tissue paravertebral neoplasm diagnosed prenatally. Histopathology and immunophenotype were consistent with a CD99 + , NKX2.2 + undifferentiated round cell sarcoma (URSC); whole-exome RNA-sequencing demonstrated an undescribed in-frame TAF15::ETV4 fusion transcript, while consensus clustering analysis showed high transcriptomic proximity to the ES group. Given clinical context, high tumor chemosensitivity to ES conventional drugs, morphological characteristics, nature of the fusion partners involved, and high transcriptomic proximity to bona fide ESs, this case may represent a new genetic variant of ES.
Literatur
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Metadaten
Titel
Identification of a novel translocation producing an in-frame fusion of TAF15 and ETV4 in a case of extraosseous Ewing sarcoma revealed in the prenatal period
verfasst von
Cécile Picard
Nicolas Macagno
Nadège Corradini
Perrine Marec-Bérard
Sara Cabet
Laurent Guibaud
Loic Viremouneix
Sébastien Raux
Franck Chotel
Nicolas Weinbreck
Alexandra Meurgey
Marie Karanian
Daniel Pissaloux
Frank Tirode
Frédérique Dijoud
Publikationsdatum
09.05.2022
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-022-03335-2

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