KIT Gene Mutation

**Semantic type:** Cell or Molecular Dysfunction

**Definition:** A molecular genetic abnormality that refers to mutation of the c-kit (CD117) proto-oncogene. It is associated with the development of gastrointestinal stromal tumor and gastrointestinal autonomic nerve tumor. It has also been described in acute myeloid leukemias, dysgerminomas, and seminomas.

**Synonyms:** - C-KIT Mutation - CD117 Gene Mutation - CD117 Mutation - CKIT Mutation - Unspecified - KIT Mutation - KIT Proto-Oncogene Tyrosine Protein Kinase Gene Mutation - V-Kit Hardy-Zuckerman 4 Feline Sarcoma Viral Oncogene Homolog Gene Mutation - c-KIT Gene Mutation