| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
| somatic mutation
|
|
|
|
|
in mastocytosis, with an associated hematologic disorder, and in sporadic and familial stomach, intestines stromal tumors |
| tumoral
|
|
| --over
|
|
|
in gastrointestinal tumors |
| tumoral
| somatic mutation
|
|
|
|
|
in acute myeloid leukemia |
| tumoral
| somatic mutation
|
|
|
|
|
in synovial sarcoma |
| tumoral
|
|
| --over
|
|
of KIT and KITLG expression in primary Merkel cell carcinoma and in metastases suggests an early event in Merkel cell transformation  |
| tumoral
| somatic mutation
|
|
|
|
|
in mucosal melanomas irrespective of the location of the primary tumour |
| tumoral
|
| amplification
|
|
|
|
coamplification of PDGFRA or KDR with KIT may be clinically useful novel molecular markers in medulloblastomas and primitive neuroectodermal tumors |
| tumoral
|
|
| --over
|
|
|
of KIT, TP53, and MKI67 reflects tumor grade and predicts survival in neuroendocrine carcinomas, but fail as prognostic markers in the subset of small cell lung cancer patients |
| constitutional
| germinal mutation
|
|
| gain of function
|
|
activating mutations found in the majority of patients with systemic mastocytosis |
| tumoral
|
|
| --over
|
|
|
in the human meningiomas |
