Medical Knowledge Cockpit gastrointestinal stromal tumor, familial

KIT

• Phosphatidylinositol 3-kinase and Src family kinases are required for phosphorylation and membrane recruitment of Dok-1 in c-Kit signaling
• Lyn associates with the juxtamembrane region of c-Kit and is activated by stem cell factor in hematopoietic cell lines and normal progenitor cells
• The MATK tyrosine kinase interacts in a specific and SH2-dependent manner with c-Kit
• Direct association of Csk homologous kinase (CHK) with the diphosphorylated site Tyr568/570 of the activated c-KIT in megakaryocytes

KIT

Somatic tumors

GIST, AML, TGCT, mastocytosis, mucosal melanoma

Tumor types germline

GIST, epithelioma

Cancer Syndrom

familial gastrointestinal stromal tumour

Translocation partner

Name

v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog

Chromosome banding

4q12

Cancer molecular gen.

Dom

Mutation type

Mis, O

Other syndrome disease

Piebald trait