Table 1. Features of medulloblastoma subgroups.
Subtype | Molecular characteristics | Mutations | Age group |
---|---|---|---|
WNT activated | WNT pathway activation | CTNNB1 DDX3X Chromatin-remodeling genes TP53 |
Least common of subgroups Found in children and adults, not infants |
SHH activated and TP53 wild-
type |
SHH pathway activation | PTCH1 SMO SUFU TERT promoter Chromatin-remodeling genes |
Infants, children, and adults |
SHH activated and TP53
mutant |
SHH pathway activation | TP53 | 5–18 years old |
Group 3 | Elevated expression of MYC GABRA5 over-expression |
SMARCA4 Chromatin-remodeling genes Genes of TGF-β pathway |
Infants and children, not adults
More common in boys than in girls |
Group 4 | Lmx1A expression | Chromatin-remodeling genes |
More common in children than in
adults Least common in infants |
CTNNB1, catenin beta 1; DDX3X, DEAD-box helicase 3; Lmx1a, LIM homeobox transcription factor; PTCH1, Patched-1; SHH, sonic hedgehog; SMARCA4, SWI (switching)/SNF (sucrose non-fermenting)-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4; SMO, smoothened receptor; SUFU, suppressor of fused homolog protein; TERT, telomerase reverse transcriptase; TGF-β, transforming growth factor beta; TP53, tumor suppressor protein p53.