Associated Genetic Biomarkers
Associated Diseases
Associated Pathways

Overview

Location [1]
4q12
Pathway
Receptor tyrosine kinase/growth factor signaling
Synonyms [1]
CD117, PBT, SCFR, MASTC, C-Kit

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

Biomarker-Directed Therapies

Significance of KIT in Diseases

Gastrointestinal Stromal Tumor +

Melanoma +

Thymic Carcinoma +

Acute Myeloid Leukemia +

Myelodysplastic Syndromes +

Malignant Solid Tumor +

Acute Lymphoblastic Leukemia +

Chronic Myeloid Leukemia +

Multiple Myeloma +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Non-Small Cell Lung Carcinoma +

Acute Biphenotypic Leukemia +

Non-Hodgkin Lymphoma +

Chronic Lymphocytic Leukemia +

Lymphoma +

Myeloproliferative Neoplasm +

Acute Leukemia +

Breast Carcinoma +

Cancer +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Pancreatic Carcinoma +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Adenocarcinoma Of The Gastroesophageal Junction +

Anaplastic Large Cell Lymphoma +

B-Cell Non-Hodgkin Lymphoma +

Bladder Carcinoma +

Burkitt Lymphoma +

Colorectal Carcinoma +

Follicular Lymphoma +

Head And Neck Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mucosal Melanoma +

Myelofibrosis +

Ovarian Carcinoma +

Prolymphocytic Leukemia +

Secondary Acute Myeloid Leukemia +

Soft Tissue Sarcoma +

Systemic Mastocytosis +

Acral Lentiginous Melanoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Promyelocytic Leukemia +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aggressive Systemic Mastocytosis +

Anaplastic Astrocytoma +

Aplastic Anemia +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Diffuse Large B-Cell Lymphoma +

Esophageal Carcinoma +

Esophageal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Gastric Adenocarcinoma +

Gastric Carcinoma +

Glioblastoma +

Hepatobiliary Neoplasm +

Juvenile Myelomonocytic Leukemia +

Leukemia +

Lip And Oral Cavity Carcinoma +

Lung Carcinoma +

Malignant Germ Cell Tumor +

Malignant Glioma +

Malignant Hepatobiliary Neoplasm +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Malignant Uterine Neoplasm +

Mast Cell Leukemia +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-1 +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Myeloid Neoplasm +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Penile Carcinoma +

Plasma Cell Leukemia +

Prostate Carcinoma +

Refractory Anemia +

Sarcoma +

Small Cell Lung Carcinoma +

Small Lymphocytic Leukemia +

Systemic Mastocytosis With An Associated Hematological Neoplasm (SM-AHN) +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

Urothelial Carcinoma +

References

1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. 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 8. 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.