Exploration of Targeted Anti-tumor Therapy

Table 2

Summary of molecular pathology markers in MB

Gene	Status	MB subtypes	Prognosis	References
CTNNB1	Mutation	WNT	Good	[19]
PTCH1/SMO	Mutation	SHH	Dependent on TP53	[3, 16, 23]
SUFU	Germline mutation	SHH	Poor	[28]
TP53	Mutation	WNT	Good	[3, 21, 29]
TP53	Mutation	SHH	poor	[3, 13, 21, 29]
DDX3X	Mutation	WNT, SHH	Unknown	[13, 40, 41]
CREBBP	Mutation	SHH	Unknown	[40, 42]
MLL2	Mutation	WNT, SHH	Unknown	[44, 45]
MLL3	Mutation	WNT, SHH	Unknown	[44, 45]
TERT	Promoter mutation	WNT	Unaffected	[46]
		Group 3
		SHH	Good	[47]
		Group 4	Poor	[48]
MYC	Amplification	Group 3	Poor	[51–53]
MYC	Post-translational modifications	Group 3	Poor	[96]
MYCN	Amplification	SHH	Poor	[23, 52, 55, 56]
MYCN	Amplification	Group 4	Unknown	[57]
OTX2	Amplification	WNT, non-WNT/non-SHH	Unknown	[62–64]
CDK6	Amplification	All groups	Poor	[13, 48, 67]
PTEN	Loss	SHH	poor	[51, 70]
PTEN	Loss	Group 4	Unknown	[70]
KDM6A	Copy number loss	non-WNT/non-SHH	Unknown	[40]
KDM6A	Mutation	SHH, non-WNT/non-SHH		[13, 23, 72]
KBTBD4	Insertion	non-WNT/non-SHH	Unknown	[25, 48, 49, 74]
GLI2	Amplification	SHH	Poor	[23, 25, 80]
Chromosome 11	Loss	Group 4	Good	[56, 82]
Chromosome 17	iso 17q	Group 3	Poor	[54, 57, 60]
Chromosome 17	Gain	Group 4	Good	[56, 82]
TNRC6C	DNA methy	All groups	Poor	[84]
MXI1	DNA methy	Non-WNT	Poor	[87]
IL8	DNA methy	Non-WNT	Poor	[87]
Lmx1A	Enhancer activation	Group 4	Poor	[89]
PRDM6	Enhancer hijacking	Group 4	Unknown	[25]
GFI1	Transcriptional activation	non-WNT/non-SHH	Unknown	[13, 25, 92]
GFI1B	Transcriptional activation	non-WNT/non-SHH	Unknown	[13, 25, 92]
ERBB4	Post-transcriptional regulation	Group 4	Poor	[94]

methy: methylation