Year: 2024
Type: article
Abstract: BACKGROUND: Medulloblastoma (MB) is one of the most prevalent embryonal malignant brain tumors. Current classification organizes these tumors into 4 molecular subgroups (WNT, SHH, Group 3, and Group 4 MB). Recently, a comprehensive classification has been established, identifying numerous subtypes, some of which exhibit a poor prognosis. It is critical to establish effective subtyping methods for accurate diagnosis and patient's management that strikes a delicate balance between improving outcomes and minimizing the risk of comorbidities. METHODS: We evaluated the ability of Nanopore sequencing to provide clinically relevant methylation and copy number profiles of MB. Nanopore sequencing was applied to an EPIC cohort of 44 frozen MB, benchmarked against the gold standard EPIC array, and further evaluated on an integrated diagnosis cohort of 116 MB. RESULTS: Most MB of both cohorts (42/44; 95.5% and 106/116; 91.4%, respectively) were accurately subgrouped by Nanopore sequencing. Employing Flongle flow cells for 18 MB allowed a more rapid and cost-effective analysis, with 94.4% (17/18) being correctly classified. Nanopore sequencing enabled us to accurately subtype 28/30 (93.3%) MB. CONCLUSION: This study, conducted on the largest cohort of MB analyzed with Nanopore sequencing to date, establishes the proof of concept that this modern and innovative technology is well-suited for MB classification. Nanopore sequencing demonstrates a robust capacity for precise subtyping of MB, a critical advancement that holds significant potential for enhancing patient stratification in future clinical trials. Its ability to deliver quick and cost-effective results firmly establishes it as a game-changer in the field of MB classification.
Source: Neuro-Oncology
Authors: Mathilde Filser, Jacob Torrejon, Kevin Merchadou, Christelle Dufour, Elodie Girard, Christine Bourneix, Elisa Lemaître, Tarek Gharsalli, Riwan Brillet, Jennifer Wong, David Gentien, Audrey Rapinat, Nicolas Servant, Alexandre Vasiljevic, Anne Isabelle Bertozzi, Sandra Raimbault, Arnault Tauziede Espariat, Benoit Lhermitte, Cécile Faure-Conter, Céline Icher, Claire Berger, Claude Alain Maurage, Damien Bodet, David Meyronet, Emmanuelle Uro-Coste, Emilie De Carli, Fabien Forest, Gilles Palenzuela, Guillaume Chotard, Guillaume Gauchotte, Helene Sudour, Ludovic Mansuy, Marianna Deparis, Matthias Tallegas, Maxime Faisant, Natacha Entz-Werle, Pascale Varlet, Pierre Leblond, Sophie Michalak-Provost, Stéphanie Proust Houdemont, Valérie Rigau, François Doz, Olivier Delattre, Franck Bourdeaut, Olivier Ayrault, Julien Masliah-Planchon
Institutions: Université Paris Sciences et Lettres, Institut Curie, Centre National de la Recherche Scientifique, Inserm, Université Paris-Saclay, Institut Gustave Roussy, Centre de Recherche en Neurosciences de Lyon, Hospices Civils de Lyon, Centre Hospitalier Universitaire de Toulouse, Centre Oscar Lambret, Centre Hospitalier Sainte-Anne, Hôpitaux Universitaires de Strasbourg, Centre Hospitalier Universitaire de Bordeaux, Centre Hospitalier Universitaire de Saint-Étienne, Université Jean Monnet, Université Jean Monnet, Centre Hospitalier Universitaire de Lille, Centre Hospitalier Universitaire de Caen Normandie, Lyon 1 Université, Université Toulouse III - Paul Sabatier, Institut universitaire du cancer de Toulouse Oncopole, Centre Hospitalier Universitaire d'Angers, Centre Hospitalier Universitaire de Montpellier, Hôpital Pellegrin, Institut de Cancérologie de Lorraine, Centre Hospitalier Régional et Universitaire de Nancy, Nutrition-Génétique et Exposition aux Risques Environnementaux, Université de Lorraine, Université de Tours, Centre Hospitalier Universitaire de Tours, Université de Strasbourg, Institut d’Hématologie et d’Oncologie Pédiatrique, Centre Léon Bérard, Hôpital Gui de Chauliac, Institut de Génomique Fonctionnelle, Université Paris Cité
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: green
Funders: Nvidia, Université de Lorraine, Société Française de lutte contre les Cancers et les leucémies de l'Enfant et de l'Adolescent, Institut National de la Santé et de la Recherche Médicale, Université de Strasbourg, Université de Toulouse, Centre National de la Recherche Scientifique, Institut National Du Cancer, Hospices Civils de Lyon, Institut de Cancérologie de Lorraine, Centre hospitalier régional universitaire de Lille, Centre Léon Bérard
Award: G6386203376
OpenAlex ID: W4405862938