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Interpretation 268
Tier 2
KIT
Variants
Primary Sites
Colon
Rectum
Tumor Types
Adenocarcinoma
Interpretation

c-kit (CD117) is a growth factor receptor of the tyrosine kinase subclass III family, normally expressed in a variety of human tissues. Gain-of-function mutations of the c-kit gene have been identified that produce ligand-independent activation of c-kit and cell proliferation. Some of these mutations appear causative in the pathogenesis of adult mastocytosis and most gastrointestinal stromal tumors (GISTs). c-kit receptor and its ligand have been demonstrated in human colon cancer cell lines. Some studies have shown high frequency of c-Kit overexpression in stage II colon cancer patients (59.3%) with significant correlation between c-Kit overexpression and reduced disease free survival. However, other studies failed to demonstrate c-kit expression in a significant number of colorectal cancers suggesting that c-kit kinase activation is not a prominent pathogenetic feature of colorectal cancers. Role of c-Kit continues to be studied in colon cancers.

Citations
  1. Yorke R, et al. c-kit proto-oncogene product is rarely detected in colorectal adenocarcinoma. J Clin Oncol 2003;21(20):3885-6; discussion 3886-7
  2. El-Serafi MM, et al. The prognostic value of c-Kit, K-ras codon 12, and p53 codon 72 mutations in Egyptian patients with stage II colorectal cancer. Cancer 2010;116(21):4954-64
  3. Reed J, et al. Immunohistochemical staining for c-Kit (CD117) is a rare event in human colorectal carcinoma. Clin Colorectal Cancer 2002;2(2):119-22
  4. Bellone G, et al. Aberrant activation of c-kit protects colon carcinoma cells against apoptosis and enhances their invasive potential. Cancer Res 2001;61(5):2200-6
Last updated: 2016-05-05 13:42:01 UTC
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When using PMKB, please cite: Huang et al., JAMIA 2017


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