medulloblastoma
MIM.155255
Molecular biology
somatic mutations in PTCH and PTCH2 genes
allelotyping
expression profiling: #14500378#
Cytogenetics
17p deletion (TP53, KCTD11)
- isochromosome 17q
Allelotyping (#11857089#)
| Region | LOH% | Genes |
| 1p32 | - | PTCH2 |
| 5q22 | - | APC |
| 7q | 58.3% | |
| 8p22-23.1 | 66.7% | - |
| 9q22.3 | - | PTCH1 |
| 10q24-q25 | ||
| 10q25.3-q26.1 | ||
| 11q24.1-qter | ||
| 16q | 58.3% | |
| 17p13.1-p12 | 58.3% | TP53 |
| 17q | 66.7% |
Gene inactivating mutations
| PTCH2 | 1p32 | MIM.603673 |
| APC | 5q21-5q22 | MIM.175100 |
| SUFU | 10q24-q25 | MIM.607035 |
| BRCA2 | 13q12.3 | MIM.600185 |
Gene activating mutations
| CTNNB1 | 3p22-p21.3 | MIM.116806 |
Gene amplification
MYC amplification
Differential diagnosis
atypical teratoid/rhabdoid tumor (ATRT)
Predispositions
Fanconi anemia (Fanconi syndrome)
- +/- BRCA2 biallelic mutations (#14670928#)
References
Ferretti E, Smaele ED, Marcotullio LD, Screpanti I, Gulino A. Hedgehog checkpoints in medulloblastoma: the chromosome 17p deletion paradigm. Trends Mol Med. 2005 Dec;11(12):537-45. PMID: #16290230#
Medulloblastoma
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