Molecular subgrouping of atypical teratoid/rhabdoid tumors - A reinvestigation and current consensus

Ben Ho, Pascal D. Johann, Pascal D. Johann, Pascal D. Johann, Yura Grabovska, Mamy Jean De Dieu Andrianteranagna, Mamy Jean De Dieu Andrianteranagna, Fupan Yao, Michael Frühwald, Martin Hasselblatt, Franck Bourdeaut, Franck Bourdeaut, Daniel Williamson, Annie Huang, Marcel Kool, Marcel Kool

Onderzoeksoutput: Bijdrage aan tijdschriftArtikel recenserenpeer review

69 Citaten (Scopus)

Samenvatting

Background: Atypical teratoid/rhabdoid tumors (ATRTs) are known to exhibit molecular and clinical heterogeneity even though SMARCB1 inactivation is the sole recurrent genetic event present in nearly all cases. Indeed, recent studies demonstrated 3 molecular subgroups of ATRTs that are genetically, epigenetically, and clinically distinct. As these studies included different numbers of tumors, various subgrouping techniques, and naming, an international working group sought to align previous findings and to reach a consensus on nomenclature and clinicopathological significance of ATRT subgroups. Methods: We integrated various methods to perform a meta-analysis on published and unpublished DNA methylation and gene expression datasets of ATRTs and associated clinicopathological data. Results: In concordance with previous studies, the analyses identified 3 main molecular subgroups of ATRTs, for which a consensus was reached to name them ATRT-TYR, ATRT-SHH, and ATRT-MYC. The ATRT-SHH subgroup exhibited further heterogeneity, segregating further into 2 subtypes associated with a predominant supratentorial (ATRT-SHH-1) or infratentorial (ATRT-SHH-2) location. For each ATRT subgroup we provide an overview of its main molecular and clinical characteristics, including SMARCB1 alterations and pathway activation. Conclusions: The introduction of a common classification, characterization, and nomenclature of ATRT subgroups will facilitate future research and serve as a common ground for subgrouping patient samples and ATRT models, which will aid in refining subgroup-based therapies for ATRT patients.

Originele taal-2Engels
Pagina's (van-tot)613-624
Aantal pagina's12
TijdschriftNeuro-Oncology
Volume22
Nummer van het tijdschrift5
DOI's
StatusGepubliceerd - 15 mei 2020
Extern gepubliceerdJa

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