SRF-FOXO1 and SRF-NCOA1 Fusion Genes Delineate a Distinctive Subset of Well-differentiated Rhabdomyosarcoma

Autor: Nadège Corradini, Jean-Yves Blay, Adeline Duc-Gallet, Marie-Pierre Castex, Franck Tirode, Véronique Minard, Daniel Pissaloux, François Le Loarer, Carole Chevenet, Anne Gomez-Brouchet, Carla Fernandez, Marie Karanian
Přispěvatelé: TIRODE, Franck, 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), Département d'anatomopathologie, biopathologie, Centre Léon Bérard [Lyon], Institut Universitaire du Cancer de Toulouse - Oncopole (IUCT Oncopole - UMR 1037), Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM), Service d'Anatomie Pathologique [CHU Clermont-Ferrand], CHU Gabriel Montpied [Clermont-Ferrand], CHU Clermont-Ferrand-CHU Clermont-Ferrand, Institut Bergonié [Bordeaux], UNICANCER, Centre hospitalier Félix-Guyon [Saint-Denis, La Réunion], Département de cancérologie de l'enfant et de l'adolescent [Gustave Roussy], Institut Gustave Roussy (IGR), Institut d'hématologie et d'oncologie pédiatrique [CHU - HCL] (IHOPe), Hospices Civils de Lyon (HCL), Sercice Hématologie, immunologie et oncologie pédiatrique [CHU Toulouse], Pôle Enfants [CHU Toulouse], Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées-CHU Toulouse [Toulouse]-Institut National de la Santé et de la Recherche Médicale (INSERM), Département d'oncologie pédiatrique [CHU Toulouse], CHU Toulouse [Toulouse]
Rok vydání: 2020
Předmět:
0301 basic medicine
Male
Pathology
medicine.medical_specialty
Serum Response Factor
Paraspinal Muscles
[SDV.CAN]Life Sciences [q-bio]/Cancer
In situ hybridization
Biology
[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry
Molecular Biology/Molecular biology
Pathology and Forensic Medicine
Fusion gene
03 medical and health sciences
0302 clinical medicine
Nuclear Receptor Coactivator 1
[SDV.CAN] Life Sciences [q-bio]/Cancer
Neck Muscles
[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry
Molecular Biology/Genomics [q-bio.GN]
Rhabdomyosarcoma
medicine
Adjuvant therapy
Biomarkers
Tumor
Humans
Genetic Predisposition to Disease
Nuclear atypia
In Situ Hybridization
Fluorescence
Comparative Genomic Hybridization
Forkhead Box Protein O1
Sequence Analysis
RNA
Infant
[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry
Molecular Biology/Molecular biology
Cell Differentiation
medicine.disease
Phenotype
3. Good health
030104 developmental biology
Treatment Outcome
PTCH1
Head and Neck Neoplasms
030220 oncology & carcinogenesis
Child
Preschool
[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry
Molecular Biology/Genomics [q-bio.GN]
Surgery
Female
Anatomy
Gene Fusion
Comparative genomic hybridization
Zdroj: American Journal of Surgical Pathology
American Journal of Surgical Pathology, 2020, 44 (5), pp.607-616. ⟨10.1097/PAS.0000000000001464⟩
American Journal of Surgical Pathology, Lippincott, Williams & Wilkins, 2020, 44 (5), pp.607-616. ⟨10.1097/PAS.0000000000001464⟩
ISSN: 1532-0979
0147-5185
Popis: International audience; Rhabdomyosarcoma (RMS) encompasses a heterogenous collection of tumors in which new groups have recently been identified that improved the World Health Organization (WHO) classification. While performing RNA-sequencing in our routine practice, we identified 3 cases of well-differentiated RMS harboring new fusion genes. We also analyzed these tumors through array-comparative genomic hybridization. Clinically, these tumors were deep paraspinal tumors, occurring in neo-nat and young children. The patients underwent resection and adjuvant therapy. At the time of last follow-up (ranging from 12 to 108 mo), they were alive without disease. Histologically, these tumors consisted of well-differentiated rhabdomyoblastic proliferations with nuclear atypia, infiltrative borders, and a specific growth pattern. These tumors harbored new fusion genes involving SRF and either FOXO1 or NCOA1. We compared the expression profiles of these 3 tumors to the expression data of a series of 33 skeletal muscle tumors including embryonal RMSs, alveolar rhandomyosarcomas, RMSs with VGLL2 fusions, RMSs with the myoD1 mutation, EWSR1/FUS-TFCP2 epithelioid and spindle cell RMSs of the bone, and rhabdomyomas with PTCH1 loss. According to clustering analyses, the 3 SRF-fused tumors formed a distinct group with a specific expression profile different from that of the other types of skeletal muscle tumors. Array-comparative genomic hybridization showed a recurrent gain of chromosome 11. These 3 tumors define a new group of RMS associated with a fusion of the SRF gene. FOXO1 rearrangements, usually used to confirm the diagnosis of alveolar RMS and identify poor-outcome RMSs, were identified in a nonalveolar RMS for the first time.
Databáze: OpenAIRE
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