Associated Genetic Biomarkers
Associated Diseases
Associated Pathways


Location [1]
Receptor tyrosine kinase/growth factor signaling
Protein [2]
Mast/stem cell growth factor receptor Kit
Synonyms [1]

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 2.86% of all cancers with gastrointestinal stromal tumor, lung adenocarcinoma, colon adenocarcinoma, conventional glioblastoma multiforme, and melanoma having the greatest prevalence of alterations [3].

KIT GENIE Cases - Top Diseases

The most common alterations in KIT are KIT Mutation (2.41%), KIT Exon 11 Mutation (0.85%), KIT Amplification (0.67%), KIT Deletion (0.50%), and KIT Exon 11 Deletion (0.49%) [3].

KIT GENIE Cases - Top Alterations

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 +

Non-Small Cell Lung Carcinoma +

Hodgkin Lymphoma +

Non-Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Chronic Lymphocytic Leukemia +

Lymphoma +

Myeloproliferative Neoplasm +

Myelodysplastic/Myeloproliferative Neoplasm +

Cancer +

Acute Leukemia +

Therapy-Related Myelodysplastic Syndrome +

Breast Carcinoma +

Pancreatic Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Systemic Mastocytosis +

Soft Tissue Sarcoma +

Mucosal Melanoma +

Anaplastic Large Cell Lymphoma +

Colorectal Carcinoma +

Bladder Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Ovarian Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Head And Neck Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Follicular Lymphoma +

Myelofibrosis +

Mantle Cell Lymphoma +

Burkitt Lymphoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Marginal Zone Lymphoma +

Prolymphocytic Leukemia +

Secondary Acute Myeloid Leukemia +

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

Sarcoma +

Acral Lentiginous Melanoma +

Malignant Germ Cell Tumor +

Anaplastic Astrocytoma +

Glioblastoma +

Malignant Glioma +

Nasal Cavity And Paranasal Sinus Carcinoma +

Penile Carcinoma +

Malignant Uterine Neoplasm +

Small Cell Lung Carcinoma +

Malignant Laryngeal Neoplasm +

Malignant Salivary Gland Neoplasm +

Urothelial Carcinoma +

Leukemia +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Gallbladder Carcinoma +

Lung Carcinoma +

Myeloid Neoplasm +

T-Cell And NK-Cell Neoplasm +

Cervical Carcinoma +

Nasopharyngeal Carcinoma +

Diffuse Large B-Cell Lymphoma +

Hepatobiliary Neoplasm +

Lip And Oral Cavity Carcinoma +

Malignant Hepatobiliary Neoplasm +

Gastric Adenocarcinoma +

Esophageal Carcinoma +

Gastric Carcinoma +

Bile Duct Carcinoma +

Cholangiocarcinoma +

Prostate Carcinoma +

Esophageal Squamous Cell Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Promyelocytic Leukemia +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aggressive Systemic Mastocytosis +

Aplastic Anemia +

Bronchogenic Carcinoma +

Juvenile Myelomonocytic Leukemia +

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 +

Plasma Cell Leukemia +

Refractory Anemia +

Small Lymphocytic Leukemia +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015.

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.