| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
| deletion
|
|
|
|
in chromic myeloid leukemia |
| tumoral
|
| LOH
|
|
|
|
in meningiomas |
| tumoral
|
| deletion
|
|
|
|
or mutated in malignant rhabdoid tumor or atypical teratoid tumor |
| tumoral
| somatic mutation
|
|
|
|
|
in plexus carcinoma |
| tumoral
|
|
|
| loss of function
|
|
stimulates cell cycle progression and cooperates with p53 loss in oncogenic transformation, in infantile malignant rhabdoid tumors, and epithelioid sarcomas |
| tumoral
| germinal mutation
|
|
| loss of function
|
|
mutation loss of functio in familial schwannomatosis |
| tumoral
|
| deletion
|
|
|
|
predisposing to malignant rhabdoid tumor |
| tumoral
|
| LOH
|
|
|
|
in schwannomatosis |
| tumoral
| germinal mutation
|
|
|
|
associated with somatic NF2 mutations in familial multiple meningiomas  |
| constitutional
| germinal mutation
|
|
| loss of function
|
|
ID via EHMT1-associated chromatin modification module |
| tumoral
|
|
| --low
|
|
|
is associated with poor prognosis in skull base chordoma |
| tumoral
| germinal mutation
|
|
|
|
|
predispose to rhabdoid tumors and schwannomas |
| tumoral
|
|
|
|
|
|
complete absence of SMARCB1 immunoreactivity seen in malignant rhabdoid tumor |
| tumoral
|
|
| --low
|
|
|
decreased SMARCB1 immunoreactivity with a high specificity (100 p100) for synovial sarcoma and particular sensitivity for poorly differentiated subtypes of synovial sarcoma |
| constitutional
|
| amplification
|
|
|
|
microduplication in region with SMARCB1 and SNRPD3 genes in patient presented healed cleft lip, mild facial dysmorphism, cognitive deficit, and delayed language development associated with severe behavioral problems including learning difficulties and aggressive behavior |
