Clinicopathologic Features of CIC-NUTM1 Sarcomas, a New Molecular Variant of the Family of CIC-fused Sarcomas
| Autor: | Gaëlle Pierron, François Le Loarer, Louise Galmiche-Rolland, Jean Michel Coindre, Franck Tirode, Sarah Watson, A. Michot, Daniel Pissaloux, Dominique Ranchère-Vince, Catherine Godfraind, Antoine Italiano, Laetitia Mayeur, Alexandre Vasiljevic, Karen Silva |
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| Přispěvatelé: | Centre de Recherche en Cancérologie de Lyon (UNICANCER/CRCL), Centre Léon Bérard [Lyon]-Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Immunité et cancer, Institut Curie [Paris]-Institut National de la Santé et de la Recherche Médicale (INSERM), CHU Clermont-Ferrand, Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Université Clermont Auvergne [2017-2020] (UCA [2017-2020])-Institut National de la Santé et de la Recherche Médicale (INSERM), Service de pathologie [CHU Necker], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5), Laboratory of Solid Tumors Genetics, Nice University Hospital, Service de chirurgie plastique et reconstructive, CHU Bordeaux [Bordeaux]-Groupe hospitalier Pellegrin, Unité de Génétique Somatique, Institut Curie [Paris], Service de Pathologie, Hospices Civils de Lyon (HCL)-Hôpital neurologique et neurochirurgical Pierre Wertheimer [CHU - HCL], Hospices Civils de Lyon (HCL), Université de Lyon, Institut Bergonié [Bordeaux], UNICANCER, Centre de recherche de l'Institut Curie [Paris], INSERM U1218 ACTION, Université de Bordeaux (UB), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne [2017-2020] (UCA [2017-2020]), Centre de Recherche en Cancérologie de Lyon (CRCL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Centre Léon Bérard [Lyon]-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut Curie-Institut National de la Santé et de la Recherche Médicale (INSERM), Imagerie Moléculaire et Stratégies Théranostiques - Clermont Auvergne (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-CHU Necker - Enfants Malades [AP-HP], Institut Curie, Institut Bergonié - CRLCC Bordeaux |
| Jazyk: | angličtina |
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine Pathology medicine.medical_specialty Adolescent Recombinant Fusion Proteins Soft Tissue Neoplasms [SDV.CAN]Life Sciences [q-bio]/Cancer Pathology and Forensic Medicine Young Adult 03 medical and health sciences Exon 0302 clinical medicine DUX4 Humans Medicine Child Lung medicine.diagnostic_test business.industry Breakpoint Nuclear Proteins Soft tissue Sarcoma medicine.disease Phenotype Neoplasm Proteins 3. Good health Repressor Proteins 030104 developmental biology medicine.anatomical_structure Child Preschool 030220 oncology & carcinogenesis Female Surgery Anatomy business Fluorescence in situ hybridization |
| Zdroj: | American Journal of Surgical Pathology American Journal of Surgical Pathology, Lippincott, Williams & Wilkins, 2018, ⟨10.1097/PAS.0000000000001187⟩ BASE-Bielefeld Academic Search Engine American Journal of Surgical Pathology, 2018, ⟨10.1097/PAS.0000000000001187⟩ |
| ISSN: | 0147-5185 |
| DOI: | 10.1097/PAS.0000000000001187⟩ |
| Popis: | International audience; CIC-fused sarcomas represent an emerging family of tumors, for long connected to the Ewing family group of tumors, but underlined by distinct CIC fusions with different partners. 3' Fusion partners include DUX4, FOXO4, and, as recently emphasized, NUTM1. In this study, we report the clinicopathologic and molecular features of a series of 6 CIC-NUTM1 sarcomas. Mean age at diagnosis was 6 years (2 to 27 y), and 4 patients were male individuals. Primary tumors were located in the central nervous system (n=3), paravertebral soft tissue and epidural spaces (n=1, each), and lung (n=1). Median overall survival was 17.5 months (7 to 37 mo), and all but one patient died of disease. All tumors displayed classic features of CIC-DUX4 sarcomas with round cell to epithelioid microscopic appearance. Most tumors expressed ETV4 and NUTM1 (n=5/6 and 6/6, respectively), whereas WT1cter was positive in only 2 cases. All tested tumors were positive for break-apart fluorescence in situ hybridization for CIC and NUTM1. Apart from CIC or NUTM1 genomic breakpoints, no other recurrent copy number alteration was seen on genomic profiles. Fusion transcripts were identified by RNA-sequencing on either formalin-fixed paraffin-embedded or frozen material. CIC and NUTM1 breakpoints were located between exons 16 and 20 and exons 2 and 5, respectively. Altogether, CIC-NUTM1 sarcomas represent a new molecular variant of CIC-fused sarcomas with a predilection for the central nervous system and younger pediatric population. Its phenotype may be confused with NUT carcinomas. |
| Databáze: | OpenAIRE |
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