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
| Autor: | 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 |
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| Přispěvatelé: | Hospices Civils de Lyon (HCL), Marseille medical genetics - Centre de génétique médicale de Marseille (MMG), Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut Marseille Maladies Rares (MarMaRa), Aix Marseille Université (AMU), Service d'Anatomo-Cyto-Pathologie et de NeuroPathologie [Hôpital de la Timone - APHM] (ACPNP), Aix Marseille Université (AMU)- Hôpital de la Timone [CHU - APHM] (TIMONE), Centre Léon Bérard [Lyon], Hôpital Femme Mère Enfant [CHU - HCL] (HFME), Pôle d’Excellence Jean Louis |
| Jazyk: | angličtina |
| Rok vydání: | 2022 |
| Předmět: |
Oncogene Proteins
Fusion Soft Tissue Neoplasms [SDV.CAN]Life Sciences [q-bio]/Cancer Sarcoma Ewing Translocation Genetic Pathology and Forensic Medicine Humans TAF15 Molecular Biology Pediatric TATA-Binding Protein Associated Factors [SDV.GEN]Life Sciences [q-bio]/Genetics Proto-Oncogene Proteins c-ets ETV4 Infant Newborn Sarcoma Cell Biology General Medicine TAF15::ETV4 RNA URSC Gene Fusion RNA-Binding Protein EWS Ewing sarcoma [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology [SDV.MHEP.DERM]Life Sciences [q-bio]/Human health and pathology/Dermatology |
| Zdroj: | Virchows Archiv Virchows Archiv, 2022, 481 (4), pp.665-669. ⟨10.1007/s00428-022-03335-2⟩ |
| ISSN: | 0945-6317 1432-2307 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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