Identification of prognostic markers in diffuse midline gliomas H3K27M‐mutant
| Autor: | Claude-Alain Maurage, Laurence Stechly, Matthieu Vinchon, Florence Renaud, Charlotte Dufour, Adeline Pierache, Romain Perbet, Emilie Le Rhun, Fabienne Escande, Gustavo Touzet, Nicolas Reyns, Romain Vasseur, Pierre Leblond |
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| Přispěvatelé: | SALZET, Michel, Centre de Biologie Pathologie [CHRU Lille] (Pôle de Pathologie), Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U837 (JPArc), Université Lille Nord de France (COMUE)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université de Lille-UNICANCER, Pôle de Pathologie, Centre de Biologie Pathologie, Service de Biostatistiques [CHRU Lille], Département de Neurochirurgie[Lille], Université de Lille, Droit et Santé-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Protéomique, Réponse Inflammatoire, Spectrométrie de Masse (PRISM) - U 1192 (PRISM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lille-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Service d'oncologie médicale (CHRU Lille), Service de Neuro-pédiatrie[Lille], Hôpital Jeanne de Flandre [Lille]-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Centre de Recherche Jean-Pierre AUBERT Neurosciences et Cancer - U1172 Inserm - U837 (JPArc), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Lille Nord de France (COMUE)-Université de Lille, Université Lille Nord de France (COMUE)-UNICANCER, Service de biostatistiques [CHU Lille], Université de Lille-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille) |
| Rok vydání: | 2019 |
| Předmět: |
Male
0301 basic medicine Pathology medicine.medical_specialty Adolescent [SDV]Life Sciences [q-bio] Age at diagnosis Context (language use) diffuse midline gliomas Pathology and Forensic Medicine Cohort Studies Histones Young Adult 03 medical and health sciences 0302 clinical medicine H3K27M-mutant Daily practice medicine Overall survival Humans molecular alterations Child translational study Research Articles Retrospective Studies Comparative Genomic Hybridization Brain Neoplasms chomosomal profile business.industry General Neuroscience High-Throughput Nucleotide Sequencing Infant Glioma Prognosis Immunohistochemistry 3. Good health [SDV] Life Sciences [q-bio] 030104 developmental biology Child Preschool Mutation Cohort Female Neurology (clinical) business PDGFRA Amplification prognostic markers 030217 neurology & neurosurgery Comparative genomic hybridization |
| Zdroj: | Brain Pathology Brain Pathology, 2019, 30 (1), pp.179-190. ⟨10.1111/bpa.12768⟩ Brain Pathology, Wiley, 2019, 30 (1), pp.179-190. ⟨10.1111/bpa.12768⟩ Brain Pathol |
| ISSN: | 1750-3639 1015-6305 |
| Popis: | International audience; Pediatric diffuse midline gliomas are devastating diseases. Among them, diffuse midline gliomas H3K27M-mutant are associated with worse prognosis. However, recent studies have highlighted significant differences in clinical behavior and biological alterations within this specific subgroup. In this context, simple markers are needed to refine the prognosis of diffuse midline gliomas H3K27M-mutant and guide the clinical management of patients. The aims of this study were (i) to describe the molecular, immunohistochemical and, especially, chromosomal features of a cohort of diffuse midline gliomas and (ii) to focus on H3K27M-mutant tumors to identify new prognostic markers. Patients were retrospectively selected from 2001 to 2017. Tumor samples were analyzed by immunohistochemistry (including H3K27me3, EGFR, c-MET and p53), next-generation sequencing and comparative genomic hybridization array. Forty-nine patients were included in the study. The median age at diagnosis was 9 years, and the median overall survival (OS) was 9.4 months. H3F3A or HIST1H3B mutations were identified in 80% of the samples. Within the H3K27M-mutant tumors, PDGFRA amplification, loss of 17p and a complex chromosomal profile were significantly associated with worse survival. Three prognostic markers were identified in diffuse midline gliomas H3K27M-mutant: PDGFRA amplification, loss of 17p and a complex chromosomal profile. These markers are easy to detect in daily practice and should be considered to refine the prognosis of this entity. |
| Databáze: | OpenAIRE |
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