Virchows Archiv : an international journal of pathology · 2022
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.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Picard Cécile, Macagno Nicolas, Corradini Nadège, Marec-Bérard Perrine, Cabet Sara, Guibaud Laurent, Viremouneix Loic, Raux Sébastien, Chotel Franck, Weinbreck Nicolas, Meurgey Alexandra, Karanian Marie, Pissaloux Daniel, Tirode Frank, Dijoud Frédérique
Аннотация
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.