Summary of molecular pathology markers in MB

GeneStatusMB subtypesPrognosisReferences
CTNNB1MutationWNTGood[19]
PTCH1/SMOMutationSHHDependent on TP53[3, 16, 23]
SUFUGermline mutationSHHPoor[28]
TP53MutationWNTGood[3, 21, 29]
SHHpoor[3, 13, 21, 29]
DDX3XMutationWNT, SHHUnknown[13, 40, 41]
CREBBPMutationSHHUnknown[40, 42]
MLL2MutationWNT, SHHUnknown[44, 45]
MLL3MutationWNT, SHHUnknown[44, 45]
TERTPromoter mutationWNTUnaffected[46]
Group 3
SHHGood[47]
Group 4Poor[48]
MYCAmplificationGroup 3Poor[51–53]
Post-translational modificationsGroup 3Poor[96]
MYCNAmplificationSHHPoor[23, 52, 55, 56]
Group 4Unknown[57]
OTX2AmplificationWNT, non-WNT/non-SHHUnknown[62–64]
CDK6AmplificationAll groupsPoor[13, 48, 67]
PTENLossSHHpoor[51, 70]
Group 4Unknown[70]
KDM6ACopy number lossnon-WNT/non-SHHUnknown[40]
MutationSHH, non-WNT/non-SHH[13, 23, 72]
KBTBD4Insertionnon-WNT/non-SHHUnknown[25, 48, 49, 74]
GLI2AmplificationSHHPoor[23, 25, 80]
Chromosome 11LossGroup 4Good[56, 82]
Chromosome 17iso 17qGroup 3Poor[54, 57, 60]
GainGroup 4Good[56, 82]
TNRC6CDNA methyAll groupsPoor[84]
MXI1DNA methyNon-WNTPoor[87]
IL8DNA methyNon-WNTPoor[87]
Lmx1AEnhancer activationGroup 4Poor[89]
PRDM6Enhancer hijackingGroup 4Unknown[25]
GFI1Transcriptional activationnon-WNT/non-SHHUnknown[13, 25, 92]
GFI1BTranscriptional activationnon-WNT/non-SHHUnknown[13, 25, 92]
ERBB4Post-transcriptional regulationGroup 4Poor[94]

methy: methylation