1.Brigham and Women's Hospital, Harvard Medical School, Boston , MA (USA)
Historically, medulloblastoma had been segregated into four molecular subgroups: i) WNT-activated, ii) sonic hedgehog (SHH)-activated, iii) group 3, and iv) group 4. 1 Indeed, these subgroupings were the basis for a major diagnostic restructuring which was introduced in the 2016 World Health Organization (WHO) classification of CNS tumors. 2 The 2021 classification guidelines further revised these subgroups to acknowledge the evolving knowledge of their clinical and biological heterogeneity. 3 Here, they are segregated based on their molecular or histological features. Included in the “medulloblastoma, molecularly defined” category are: i) Medulloblastoma, WNT-activated, ii) Medulloblastoma, SHH-activated and TP53-wildtype, iii) Medulloblastoma, SHH-activated and TP53-mutant, and iv) Medulloblastoma, non-WNT/non-SHH. Importantly, recent large-scale epigenetic and transcriptomic studies have uncovered further refinements beyond the 4 original molecular subgroups. 4-6 The clinical utility of these refinements is still currently being investigated and may be incorporated in a later amendment or edition of the classification guidelines.
Scott Ryall
Medulloblastoma, Molecularly Defined
Atlas Genet Cytogenet Oncol Haematol. 2023-07-28
Online version: http://atlasgeneticsoncology.org/solid-tumor/209199