Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline. / Sahm, Felix; Brandner, Sebastian; Bertero, Luca; Capper, David; French, Pim J; Figarella-Branger, Dominique; Giangaspero, Felice; Haberler, Christine; Hegi, Monika E; Kristensen, Bjarne W; Kurian, Kathreena M; Preusser, Matthias; Tops, Bastiaan B J; van den Bent, Martin; Wick, Wolfgang; Reifenberger, Guido; Wesseling, Pieter.
I: Neuro-Oncology, 02.06.2023.Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
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TY - JOUR
T1 - Molecular diagnostic tools for the World Health Organization (WHO) 2021 classification of gliomas, glioneuronal and neuronal tumors; an EANO guideline
AU - Sahm, Felix
AU - Brandner, Sebastian
AU - Bertero, Luca
AU - Capper, David
AU - French, Pim J
AU - Figarella-Branger, Dominique
AU - Giangaspero, Felice
AU - Haberler, Christine
AU - Hegi, Monika E
AU - Kristensen, Bjarne W
AU - Kurian, Kathreena M
AU - Preusser, Matthias
AU - Tops, Bastiaan B J
AU - van den Bent, Martin
AU - Wick, Wolfgang
AU - Reifenberger, Guido
AU - Wesseling, Pieter
N1 - © The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.
PY - 2023/6/2
Y1 - 2023/6/2
N2 - In the 5th edition of the WHO CNS tumor classification (CNS5, 2021), multiple molecular characteristics became essential diagnostic criteria for many additional CNS tumor types. For those tumors, an integrated, 'histomolecular' diagnosis is required. A variety of approaches exists for determining the status of the underyling molecular markers. The present guideline focuses on the methods that can be used for assessment of the currently most informative diagnostic and prognostic molecular markers for the diagnosis of gliomas, glioneuronal and neuronal tumors. The main characteristics of the molecular methods are systematically discussed, followed by recommendations and information on available evidence levels for diagnostic measures. The recommendations cover DNA and RNA next-generation-sequencing, methylome profiling, and select assays for single/limited target analysis, including immunohistochemistry. Additionally, because of its importance as a predictive marker in IDH-wildtype glioblastomas, tools for the analysis of MGMT promoter status are covered. A structured overview of the different assays with their characteristics, especially their advantages and limitations, is provided, and requirements for input material and reporting of results are clarified. General aspects of molecular diagnostic testing regarding clinical relevance, accessibility, cost, implementation, regulatory and ethical aspects are discussed as well. Finally, we provide an outlook on new developments in the landscape of molecular testing technologies in neuro-oncology.
AB - In the 5th edition of the WHO CNS tumor classification (CNS5, 2021), multiple molecular characteristics became essential diagnostic criteria for many additional CNS tumor types. For those tumors, an integrated, 'histomolecular' diagnosis is required. A variety of approaches exists for determining the status of the underyling molecular markers. The present guideline focuses on the methods that can be used for assessment of the currently most informative diagnostic and prognostic molecular markers for the diagnosis of gliomas, glioneuronal and neuronal tumors. The main characteristics of the molecular methods are systematically discussed, followed by recommendations and information on available evidence levels for diagnostic measures. The recommendations cover DNA and RNA next-generation-sequencing, methylome profiling, and select assays for single/limited target analysis, including immunohistochemistry. Additionally, because of its importance as a predictive marker in IDH-wildtype glioblastomas, tools for the analysis of MGMT promoter status are covered. A structured overview of the different assays with their characteristics, especially their advantages and limitations, is provided, and requirements for input material and reporting of results are clarified. General aspects of molecular diagnostic testing regarding clinical relevance, accessibility, cost, implementation, regulatory and ethical aspects are discussed as well. Finally, we provide an outlook on new developments in the landscape of molecular testing technologies in neuro-oncology.
U2 - 10.1093/neuonc/noad100
DO - 10.1093/neuonc/noad100
M3 - Journal article
C2 - 37279174
JO - Neuro-Oncology
JF - Neuro-Oncology
SN - 1522-8517
ER -
ID: 364507464