Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
4q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Mast/stem cell growth factor receptor Kit
Synonyms [1]
SCFR, C-Kit, CD117, PBT

KIT (v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog, also known as CD117) encodes for the mast/stem cell growth factor receptor Kit protein. It is a receptor tyrosine kinase (RTK) expressed on a wide variety of cell types. The ligand for KIT is stem cell factor (SCF). Binding of the KIT ligand SCF to the KIT RTK activates downstream signaling pathways involved in mediating pro-growth and pro-survival signals within the cell. Mutant KIT has been implicated in the pathogenesis of several cancers including melanoma, acute leukemia, and gastrointestinal stromal tumor (GIST; PMID: 14645423; PMID: 9438854

KIT is altered in 2.99% of all cancers with connective and soft tissue neoplasm, non-small cell lung carcinoma, melanoma, malignant glioma, and colorectal adenocarcinoma having the greatest prevalence of alterations [3].

KIT GENIE Cases - Top Diseases

The most common alterations in KIT are KIT Mutation (3.38%), KIT Mutation (somatic) (3.38%), KIT Amplification (0.64%), KIT Deletion (0.54%), and KIT Codon 816 Missense (0.12%) [3].

KIT GENIE Cases - Top Alterations

Biomarker-Directed Therapies

Significance of KIT in Diseases

Gastrointestinal Stromal Tumor +

Melanoma +

Thymic Carcinoma +

Acute Myeloid Leukemia +

Malignant Solid Tumor +

Myelodysplastic Syndromes +

Acute Lymphoblastic Leukemia +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Chronic Myeloid Leukemia +

Non-Small Cell Lung Carcinoma +

Breast Carcinoma +

Lymphoma +

Chronic Myelomonocytic Leukemia +

Acute Biphenotypic Leukemia +

Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Cancer +

Acute Leukemia +

Head And Neck Squamous Cell Carcinoma +

Myelodysplastic/Myeloproliferative Neoplasm +

Pancreatic Carcinoma +

Double-Hit Lymphoma +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Endometrial Carcinoma +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Colorectal Carcinoma +

Myeloproliferative Neoplasm +

Ovarian Carcinoma +

Systemic Mastocytosis +

Mucosal Melanoma +

Anaplastic Large Cell Lymphoma +

Acral Lentiginous Melanoma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Anaplastic Astrocytoma +

Small Cell Lung Carcinoma +

Hepatocellular Carcinoma +

Urothelial Carcinoma +

Diffuse Large B-Cell Lymphoma +

Bladder Carcinoma +

Nasopharyngeal Carcinoma +

Head And Neck Carcinoma +

Gastric Adenocarcinoma +

Histiocytic And Dendritic Cell Neoplasm +

Gastric Carcinoma +

Esophageal Carcinoma +

Sarcoma +

Thyroid Gland Carcinoma +

Follicular Lymphoma +

Prostate Carcinoma +

Cholangiocarcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Myelofibrosis +

Renal Cell Carcinoma +

Acute Promyelocytic Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Burkitt Lymphoma +

Hepatobiliary Neoplasm +

Juvenile Myelomonocytic Leukemia +

Lip And Oral Cavity Carcinoma +

Lymphoplasmacytic Lymphoma +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mature B-Cell Lymphoma/Leukemia +

Mature T-Cell And NK-Cell Lymphoma/Leukemia +

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Sarcoma +

Oropharyngeal Carcinoma +

Peritoneal Mesothelioma +

Prolymphocytic Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-2 +

Small Lymphocytic Leukemia +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20170629. San Francisco CA: Github;2015. https://github.com/biocommons/uta

2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.

3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 4. This dataset does not represent the totality of the genetic landscape; see paper for more information.

4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.