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Novel EWSR1::UBP1 fusion expands the spectrum of spindle cell rhabdomyosarcomas.
El Zein, Sophie; Djeroudi, Lounes; Reynaud, Stéphanie; Guillemot, Delphine; Masliah-Planchon, Julien; Frouin, Eléonore; Nicolas, Nayla; Le Loarer, François; Daniel, Catherine; Delattre, Olivier; Pierron, Gaëlle; Watson, Sarah.
Afiliación
  • El Zein S; Department of Diagnostic and Theranostic Medicine, Institut Curie Hospital, Paris, France.
  • Djeroudi L; Department of Diagnostic and Theranostic Medicine, Institut Curie Hospital, Paris, France.
  • Reynaud S; Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
  • Guillemot D; Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
  • Masliah-Planchon J; Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
  • Frouin E; Bioinformatic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
  • Nicolas N; Department of Radiology, Institut Curie Hospital, Paris, France.
  • Le Loarer F; Department of Pathology, Institut Bergonié Hospital, Bordeaux, France.
  • Daniel C; University of Bordeaux, Talence, France.
  • Delattre O; INSERM U1218, ACTION, Bordeaux, France.
  • Pierron G; Department of Medical Oncology, Institut Curie Hospital, Paris, France.
  • Watson S; Somatic Genetic Unit, Department of Genetics, Institut Curie Hospital, Paris, France.
Genes Chromosomes Cancer ; 61(4): 200-205, 2022 04.
Article en En | MEDLINE | ID: mdl-34877752
ABSTRACT
Over the last decade, the development of next-generation sequencing techniques has led to the molecular dismantlement of adult and pediatric sarcoma, with the identification of multiple gene fusions associated with specific subtypes and currently integrated into diagnostic classifications. In this report, we describe and discuss the identification of a novel EWSR1-UBP1 gene fusion in an adult patient presenting with multi-metastatic sarcoma. Extensive pathological, transcriptomic, and genomic characterization of this tumor in comparison with a cohort of different subtypes of pediatric and adult sarcoma revealed that this fusion represents a novel variant of spindle cell rhabdomyosarcoma with features of TFCP2-rearranged subfamily.
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rabdomiosarcoma / Factores de Transcripción / Proteínas de Fusión Oncogénica / Proteína EWS de Unión a ARN / Proteínas de Unión al ADN / Neoplasias Hepáticas / Neoplasias Pulmonares Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Francia

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Rabdomiosarcoma / Factores de Transcripción / Proteínas de Fusión Oncogénica / Proteína EWS de Unión a ARN / Proteínas de Unión al ADN / Neoplasias Hepáticas / Neoplasias Pulmonares Tipo de estudio: Prognostic_studies Límite: Female / Humans / Middle aged Idioma: En Revista: Genes Chromosomes Cancer Asunto de la revista: BIOLOGIA MOLECULAR / NEOPLASIAS Año: 2022 Tipo del documento: Article País de afiliación: Francia