Demography, clinical and molecular characteristics of MB

SubgroupWNTSHHNon-WNT/non-SHH group 3Non-WNT/non-SHH group 4
SubtypeWNTWNTSHHSHHSHHSHHGroupGroupGroupGroupGroupGroup
αβαβγδ
Demography and clinical featuresAge at diagnosis (years, median)102081.91.33264.827.5558.22107
Subtype proportion (%)703029.115.721.134.146.525.727.830.133.436.5
Metastases (%)8.621.420338.99.443.42039.44040.738.7
Survival rate (5 years, %)9710069.867.38888.566.255.841.966.875.482.5
Molecular featuresGene mutationCTNNB1, TP53, DDX3X, MLL2/3PTCH1, SMO, SUFU, TP53, DDX3X, CREBBP, MLL2/3, TERT, KDM6ATERT, KDM6ATERT, KDM6A
Gene modificationTNRC6C methyTNRC6C methy, MXI1 methy, IL8 methyTNRC6C methy, MXI1 methy, IL8 methyTNRC6C methy, MXI1 methy, IL8 methy, Lmx1A enhancer activation, PRDM6 induction
Copy number variationOTX2 amp, CDK6 ampMYCN amp, CDK6 amp, PTEN loss, GLI2 ampMYC amp, OTX2 amp, CDK6 amp, KDM6A loss, KBTBD4 insertionMYCN amp, OTX2 amp, CDK6 amp, PTEN loss, KDM6A loss, KBTBD4 insertion
miRNA profilemiR-183, miR-206miR-206miR-592, miR-182, miR-193a, miR-183, miR-206miR-592, miR-182, miR-183, miR-206
Other events--GFI1/GFI1B activation, MYC acetylation, and phosphorylationGFI1/GFI1B activation, ERBB4-SRC activation
Potential targeted drugsWNT/β-catenin inhibitorSMO inhibitor, GLI inhibitor, PI3K inhibitor, CDK4/6 inhibitorCDK4/6 inhibitor, MYC inhibitorCDK4/6 inhibitor

amp: amplification; CDK6: cyclin-dependent kinases 6; CREBBP: cAMP-response element binding protein (CREB)-binding protein; CTNNB1: cadherin-associated protein beta 1; DDX3X: DEAD-box helicase 3 X-linked; ERBB4-SRC: Erb-b2 receptor tyrosine kinase 4 (ERBB4)-proto-oncogene tyrosine-protein kinase SRC (SRC); GFI1: growth factor independent 1; GLI2: glioma-associated oncogene homolog 2; IL8: interleukin 8; KBTBD4: Kelch repeat and broad-complex, tramtrack, and bric-a-brac domain containing 4; KDM6A: lysine-specific demethylase 6A; Lmx1A: LIM homeobox transcription factor 1, alpha; methy: methylation; miRNA: microRNA; MLL2/3: mixed-lineage leukemia 2/3; MXI1: max interactor 1; MYC: myelocytomatosis oncogene; MYCN: neuroblastoma derived MYC; OTX2: orthodenticle homeobox 2; PI3K: phosphatidylinositol 3-kinase; PRDM6: PR/SET domain 6; PTCH1: patched 1; PTEN: phosphatase and tensin homolog; SMO: smoothened; SUFU: suppressor of fused; TERT: telomerase reverse transcriptase; TNRC6C: trinucleotide repeat containing 6C; -: blank cell