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BIOMARKER:

KIT mutation

i
Other names: KIT, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
Entrez ID:
1d
Imaging and clinicopathological features of a high-risk gastric stromal tumor: a case report. (PubMed, Am J Transl Res)
This case highlights the integration of pathological features, c-kit exon 11 mutation status, and imaging findings in the diagnosis and management of high-risk GSTs. The 4-year recurrence-free survival confirms the effectiveness of risk-stratified adjuvant therapy with imatinib.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • CD34 (CD34 molecule) • ANO1 (Anoctamin 1)
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KIT mutation • PDGFRA mutation
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imatinib
5d
Anaplastic Thyroid Carcinoma With Cardiac Dysfunction Developed During Combination Therapy With Dabrafenib and Trametinib. (PubMed, Cureus)
Although paclitaxel and lenvatinib have been used as drug treatments, combination therapy with dabrafenib and trametinib has recently been reported to be effective. Furthermore, lenvatinib, a molecularly targeted agent, shows limited efficacy against ATC and is associated with frequent adverse events. In contrast, combination therapy with dabrafenib and trametinib is considered an effective therapeutic option for patients with BRAF V600E mutation-positive ATC, when appropriate management and monitoring are implemented.
Journal
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BRAF (B-raf proto-oncogene)
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BRAF V600E • BRAF V600 • KIT mutation
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MEBGEN™ BRAF Kit
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Mekinist (trametinib) • Tafinlar (dabrafenib) • paclitaxel • Lenvima (lenvatinib)
6d
Systemic Mastocytosis in Adults: 2026 Update on Diagnosis, Risk Stratification and Management. (PubMed, Am J Hematol)
Tyrosine kinase inhibitors (TKI) (midostaurin, avapritinib) have changed the treatment landscape in SM...Cladribine continues to have a role for MC debulking, whereas interferon-α has a diminishing role in the TKI era...Allogeneic stem cell transplant has a role in such patients. Imatinib has a therapeutic role only in the rare patient with an imatinib-sensitive KIT mutation.
Journal
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NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • RUNX1 (RUNX Family Transcription Factor 1) • TNFRSF8 (TNF Receptor Superfamily Member 8) • ASXL1 (ASXL Transcriptional Regulator 1) • SRSF2 (Serine and arginine rich splicing factor 2) • IL2RA (Interleukin 2 receptor, alpha) • CD2 (CD2 Molecule)
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NRAS mutation • KIT mutation • ASXL1 mutation • TNFRSF8 expression • SRSF2 mutation
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imatinib • midostaurin • cladribine • Ayvakit (avapritinib)
7d
KIT mutation and AHN-associated oncogenic profiles in systemic mastocytosis with an associated hematological neoplasm. (PubMed, Blood Adv)
cytopenias or organomegalies) and shorter PFS and overall survival. Our findings confirm the clinical, genetic and prognostic heterogeneity of SM-AHN and point out its association with the underlying oncogenic profile of neoplastic MC and AHN cells.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
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KIT mutation
7d
Enrollment open
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KIT (KIT proto-oncogene, receptor tyrosine kinase)
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KIT mutation • KIT exon 9 mutation
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sunitinib • bezuclastinib (PLX9486) • midazolam hydrochloride
8d
Anorectal Melanoma Management Evolution: A Narrative Review. (PubMed, Ann Ital Chir)
Multidisciplinary team approaches are essential for individualized care. Future progress depends on biomarker-driven trials, integration of novel strategies such as Chimeric Antigen Receptor T-Cell (CAR-T) therapy, and stronger international collaborative research to improve outcomes in this challenging malignancy.
Review • Journal • Tumor mutational burden • IO biomarker
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TMB (Tumor Mutational Burden) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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KIT mutation • TMB-L
8d
Clinical profiling of AML1::ETO and KIT exon 17 mutation in pediatric AML by high-throughput drug sensitivity. (PubMed, BMC Cancer)
We conclude that KIT mutations, especially exon 17, confer a high-risk phenotype in otherwise favorable pediatric AML1::ETO AML. Our exploratory data suggest this may be associated with a chemoresistant profile, potentially driven by SOCS1-associated JAK-STAT dysregulation. These findings highlight the necessity of refined risk stratification based on KIT exon profiling and support targeting the SOCS1/JAK-STAT axis to overcome therapy resistance.
Journal
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • SOCS1 (Suppressor Of Cytokine Signaling 1)
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KIT mutation
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cytarabine • daunorubicin
9d
Genetic Analysis of Acral Melanomas From Southern African Patients. (PubMed, Pigment Cell Melanoma Res)
Mutational signatures included chromosomal instability and chromothripsis. There was a robust ancestry-related difference in tumor evolutionary dynamics where African ancestry was correlated with more genome doubling and clonality with less evolutionary branching.
Journal
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BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • HRAS (Harvey rat sarcoma viral oncogene homolog) • MAP2K1 (Mitogen-activated protein kinase kinase 1) • CDK4 (Cyclin-dependent kinase 4) • HLA-DRB1 (Major Histocompatibility Complex, Class II, DR Beta 1) • CDK3 (Cyclin Dependent Kinase 3)
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BRAF mutation • BRAF V600 • KIT mutation
12d
KRAS/NRAS/BRAF Mutations and Mismatch Repair Deficiency in Patients with Early-Onset Colorectal Cancer: A Clinicopathological Analysis. (PubMed, Int J Surg Pathol)
KRAS mutations were more frequent in dMMR tumors than in MMR-proficient tumors (63.8% vs 40.8%).ConclusionGenetic mutations in the RAS/RAF pathway and dMMR status are associated with distinct clinicopathological features in patients with early-onset CRC. dMMR is a potentially favorable prognostic marker.
Journal • Mismatch repair
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KRAS (KRAS proto-oncogene GTPase) • BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • MSH6 (MutS homolog 6) • MSH2 (MutS Homolog 2) • PMS2 (PMS1 protein homolog 2)
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BRAF V600E • KRAS mutation • MSI-H/dMMR • BRAF mutation • NRAS mutation • BRAF V600 • KIT mutation • RAS mutation
14d
Haplo-Cord HSCT for AML/MDS (clinicaltrials.gov)
P=N/A, N=82, Recruiting, Fujian Medical University Union Hospital | N=180 --> 82
Enrollment change
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KIT (KIT proto-oncogene, receptor tyrosine kinase) • NPM1 (Nucleophosmin 1) • RUNX1 (RUNX Family Transcription Factor 1) • RUNX1T1 (RUNX1 Partner Transcriptional Co-Repressor 1) • CEBPA (CCAAT Enhancer Binding Protein Alpha)
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NPM1 mutation • KIT mutation
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cytarabine • cyclophosphamide • melphalan • fludarabine IV • busulfan
14d
Esophageal Gastrointestinal Stromal Tumor With MKRN1-BRAF Fusion: A Rare Mediastinal Case. (PubMed, Ann Thorac Surg Short Rep)
Esophageal GISTs are exceptionally rare, and those driven by BRAF gene fusions are even more uncommon. This report describes a 69-year-old woman who underwent surgical resection of an esophageal GIST harboring an MKRN1-BRAF gene fusion, offering insight into future treatment and surveillance strategies.
Journal
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BRAF (B-raf proto-oncogene) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ANO1 (Anoctamin 1)
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KIT mutation • BRAF fusion • PDGFRA mutation
16d
Deep Learning Predicts Mutations and Outcomes in Gastrointestinal Stromal Tumors from Whole-Slide Images. (PubMed, Cancer Res)
For therapeutic categories, performance reached 0.84 for avapritinib sensitivity and 0.81 for imatinib sensitivity. Prognostic performance was comparable to pathology-based scores, with highest discrimination in the overall cohort and in patients without adjuvant therapy. DL applied to WSIs enables prediction of molecular alterations, treatment sensitivity, and RFS in GIST, performing comparably to established risk scores across international cohorts, providing a baseline for future multimodal predictors.
Journal
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PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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KIT mutation • PDGFRA D842V • PDGFRA mutation
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imatinib • Ayvakit (avapritinib)