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]
C-Kit, CD117, PBT, SCFR, MASTC

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 2.60% 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 (3.37%), KIT Exon 11 Mutation (1.07%), KIT Amplification (0.64%), KIT Deletion (0.54%), and KIT Exon 11 Deletion (0.52%) [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 +

Chronic Myeloid Leukemia +

Non-Small Cell Lung Carcinoma +

Multiple Myeloma +

Non-Hodgkin Lymphoma +

Breast Carcinoma +

Chronic Myelomonocytic Leukemia +

Hodgkin Lymphoma +

Acute Biphenotypic Leukemia +

Colorectal Carcinoma +

Chronic Lymphocytic Leukemia +

Cancer +

Lymphoma +

Pancreatic Carcinoma +

Head And Neck Squamous Cell Carcinoma +

Myeloproliferative Neoplasm +

Acute Leukemia +

Ovarian Carcinoma +

Chronic Lymphocytic Leukemia/Small Lymphocytic Lymphoma +

Double-Hit Lymphoma +

Myelodysplastic Syndrome With Excess Blasts-2 +

Myelodysplastic/Myeloproliferative Neoplasm +

Refractory Anemia With Excess Blasts +

Small Lymphocytic Lymphoma +

Therapy-Related Myelodysplastic Syndrome +

Glioblastoma +

Squamous Cell Lung Carcinoma +

Small Cell Lung Carcinoma +

Myeloid Neoplasm +

Hepatocellular Carcinoma +

Urothelial Carcinoma +

Bladder Carcinoma +

B-Cell Non-Hodgkin Lymphoma +

Gastric Adenocarcinoma +

Esophageal Carcinoma +

Adenocarcinoma Of The Gastroesophageal Junction +

Aggressive Systemic Mastocytosis +

Anaplastic Large Cell Lymphoma +

Burkitt Lymphoma +

Follicular Lymphoma +

Head And Neck Carcinoma +

Lymphoblastic Lymphoma +

Lymphoplasmacytic Lymphoma +

Mantle Cell Lymphoma +

Marginal Zone Lymphoma +

Mast Cell Leukemia +

Myelofibrosis +

Prolymphocytic Leukemia +

Renal Cell Carcinoma +

Secondary Acute Myeloid Leukemia +

Systemic Mastocytosis +

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

Mucosal Melanoma +

Malignant Germ Cell Tumor +

Acral Lentiginous Melanoma +

Endometrial Carcinoma +

Osteosarcoma +

Malignant Glioma +

Anaplastic Astrocytoma +

Malignant Uterine Neoplasm +

Undifferentiated Pleomorphic Sarcoma +

Lung Carcinoma +

Leukemia +

Malignant Salivary Gland Neoplasm +

Soft Tissue Sarcoma +

Gastric Carcinoma +

Sarcoma +

Hepatobiliary Neoplasm +

Malignant Hepatobiliary Neoplasm +

Prostate Carcinoma +

Thyroid Gland Carcinoma +

Acute Myeloid Leukemia Arising From Previous Myelodysplastic Syndrome +

Acute Promyelocytic Leukemia +

Acute Undifferentiated Leukemia +

Adult T-Cell Leukemia/Lymphoma +

Aplastic Anemia +

Bile Duct Carcinoma +

Bronchogenic Carcinoma +

Cervical Carcinoma +

Cholangiocarcinoma +

Chondrosarcoma +

Classical Hodgkin Lymphoma +

Desmoid-Type Fibromatosis +

Diffuse Large B-Cell Lymphoma +

Esophageal Squamous Cell Carcinoma +

Ewing Sarcoma +

Gallbladder Carcinoma +

Hematologic And Lymphocytic Disorder +

Hematopoietic And Lymphoid Malignancy +

Hematopoietic And Lymphoid System Neoplasm +

Histiocytic And Dendritic Cell Neoplasm +

Juvenile Myelomonocytic Leukemia +

Lip And Oral Cavity Carcinoma +

Liposarcoma +

Malignant Laryngeal Neoplasm +

Mature B-Cell Lymphoma/Leukemia +

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

Mediastinal Large B-Cell Lymphoma +

Myelodysplastic/Myeloproliferative Neoplasm, Unclassifiable +

Nasal Cavity And Paranasal Sinus Carcinoma +

Nasopharyngeal Carcinoma +

Oropharyngeal Carcinoma +

Oropharyngeal Squamous Cell Carcinoma +

Pecoma +

Penile Carcinoma +

Peritoneal Mesothelioma +

Plasma Cell Leukemia +

Refractory Anemia +

Refractory Anemia With Excess Blasts-1 +

Small Lymphocytic Leukemia +

T-Cell And NK-Cell Neoplasm +

Therapy-Related Acute Myeloid Leukemia +

Therapy-Related Chronic Myelomonocytic Leukemia +

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 6. 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.