| Type | Gene Modification | Chromosome rearrangement | Protein expression | Protein Function
|
|---|
| tumoral
|
|
|
| gain of function
|
|
in clear cell renal carcinoma with favourable outcome |
| tumoral
| fusion
| translocation
|
| protein chimeric
|
|
t(5;12)(q33;p13) in myelodysplasia, myeloproliferative disorders (MPS), chronic myelocytic leukemia (CMLL), with fusion 5' - ETV66 - PDGFRB - 3' |
| constitutional
| germinal mutation
|
|
|
|
|
gain of function mutation in the activation loop deregulates its kinase activity |
| tumoral
| fusion
| translocation
|
|
|
|
somatic traslocations in various hematological disorders resulting in PDGFRB/D10S170 fusion gene, PDGFRB/RABPT5 fusion gene, PDGFRB/HIP1 fusion gene and other partners genes |
| tumoral
| fusion
|
|
|
|
with MYO18A in an eosinophilia-associated atypical myeloproliferative neoplasm with a t(5;17)(q33-34;q11.2) |
| tumoral
| fusion
|
|
|
|
|
to SPTBN1 in imatinib-responsive atypical myeloproliferative disorders |
| constitutional
| somatic mutation
|
|
|
|
|
in intracerebral fusiform aneurysms |
