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    GENE:

    KIT (KIT proto-oncogene, receptor tyrosine kinase)

    i
    Other names: KIT, KIT proto-oncogene receptor tyrosine kinase, C-Kit, CD117, PBT, SCFR, Stem Cell Factor Receptor, V-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog
    1m
    Malignant gastrointestinal neuroectodermal tumor of the colon showing DOG1 positivity and S100 negativity: A case report. (PubMed, Indian J Pathol Microbiol)
    Fluorescence in situ hybridization (FISH) revealed EWSR1 gene rearrangement, and next-generation sequencing (NGS)-based RNA fusion gene detection identified EWSR1::ATF1 fusion, supporting the diagnosis of MGNET. We will discuss the abnormal immunophenotype and differential diagnosis of MGNET, reviewing relevant literature.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • EWSR1 (EWS RNA Binding Protein 1) • ANO1 (Anoctamin 1) • ATF1 (Activating Transcription Factor 1)
    1m
    Immunophenotypic, Cytogenetic, and Molecular Characterization of NUP98-Rearranged Pediatric Myeloid Neoplasms. (PubMed, Mod Pathol)
    In summary, NUP98 fusion partner was associated with recurring, diagnostically useful immunophenotypic, cytogenetic, and molecular patterns. These patterns can facilitate prioritization of RNA-based fusion testing, anticipate partner-specific differentials, and design flow cytometry follow-up strategies.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • RB1 (RB Transcriptional Corepressor 1) • WT1 (WT1 Transcription Factor) • CD123 (Interleukin 3 Receptor Subunit Alpha) • NUP98 (Nucleoporin 98 And 96 Precursor 2) • CD34 (CD34 molecule) • NSD1 (Nuclear Receptor Binding SET Domain Protein 1) • IL3RA (Interleukin 3 Receptor Subunit Alpha) • KDM5A (Lysine Demethylase 5A) • ITGA2B (Integrin Subunit Alpha 2b) • ITGB3 (Integrin Subunit Beta 3)
    1m
    Diagnostic features of gastrointestinal stromal tumor: a pathological analysis of 347 biopsy cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    Addressing these challenges requires​ thorough correlation with clinical and radiological findings, combined application of both immunohistochemical markers, and proactive genetic testing for cases with atypical immunohistochemical profile. These measures are crucial for improving diagnostic accuracy and guiding targeted therapies.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha) • ANO1 (Anoctamin 1)
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    KIT mutation • PDGFRA mutation
    1m
    Clinicopathological features of low-grade eosinophilic renal tumor associated with FLCN mutation: an analysis of eighteen cases (PubMed, Zhonghua Bing Li Xue Za Zhi)
    GPNMB serves as an important auxiliary marker for diagnosis of FLCN-mutation-associated low-grade eosinophilic renal tumors. Clinical, molecular, and genetic testing should be integrated to assess potential association with BHD syndrome, for making a precise diagnosis.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CDH1 (Cadherin 1) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • VIM (Vimentin) • MME (Membrane Metalloendopeptidase) • FLCN (Folliculin) • GPNMB (Glycoprotein Nmb) • CTSK (Cathepsin K) • L1CAM (L1 cell adhesion molecule) • TFEB (Transcription Factor EB 2)
    1m
    Lactate metabolism and epigenetic reprogramming drive c-KIT hyperactivation to mediate Gilteritinib resistance: Rationale for c-KIT degraders over kinase inhibitors. (PubMed, Acta Pharm Sin B)
    Furthermore, in PDX model established using AML cells from Gilteritinib-resistant patients, the degrader showed significantly superior therapeutic efficacy compared to the combination treatment of Gilteritinib and Imatinib. As a candidate drug molecule, this degrader exhibits promising potential for clinical translation.
    Journal
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    FLT3 (Fms-related tyrosine kinase 3) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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    KIT expression
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    imatinib • Xospata (gilteritinib)
    1m
    Mismatch repair protein deficiency (MMRd) and high microsatellite instability (MSI-H) in gastrointestinal stromal tumour (GIST) - a case report and review of the literature of this exceedingly rare phenotype. (PubMed, Virchows Arch)
    MSI testing by MSI PCR, however, showed a microsatellite stable result. This highlights how MSI PCR may not be sufficiently sensitive in detecting MSI-H status in tumour types outside of colorectal carcinomas.
    Journal • Mismatch repair • Tumor mutational burden • Microsatellite instability • MSi-H Biomarker • MSI-H • dMMR
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    TMB (Tumor Mutational Burden) • MSI (Microsatellite instability) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • MLH1 (MutL homolog 1) • PMS2 (PMS1 protein homolog 2) • ANO1 (Anoctamin 1)
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    MSI-H/dMMR
    1m
    Hidden in Plain Sight: Systemic Mastocytosis Manifesting as Isolated Hepatosplenomegaly in the Absence of Cutaneous and Classical Manifestations-A Case Report and Literature Review. (PubMed, Clin Case Rep)
    The patient was treated with cladribine (40 mg over five days) followed by maintenance hydroxyurea (300 mg twice daily), with significant clinical improvement at eight-week follow-up. This case underscores that SM-AHN can present with isolated hepatosplenomegaly and profound leukocytosis without cutaneous signs, and highlights the critical role of integrated molecular profiling, including KIT mutation analysis, in the diagnostic workup of atypical hematologic presentations.
    Journal
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    ABL1 (ABL proto-oncogene 1) • BCR (BCR Activator Of RhoGEF And GTPase) • KIT (KIT proto-oncogene, receptor tyrosine kinase)
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    cladribine • hydroxyurea
    1m
    Prognostic significance of Myb protein and its downstream target genes in lacrimal gland adenoid cystic carcinoma. (PubMed, Am J Clin Pathol)
    Myb protein emerged as a prognostic indicator in the pathogenesis and clinical outcomes of patients with lacrimal gland ACC.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • MYB (MYB Proto-Oncogene, Transcription Factor) • NFIB (Nuclear Factor I B) • SOX4 (SRY-Box Transcription Factor 4)
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    KIT expression
    1m
    An unresectable desmoid tumour demonstrating long-term complete response to imatinib monotherapy: a case report. (PubMed, J Med Case Rep)
    We describe a case of complete and durable remission achieved with imatinib monotherapy in an unresectable mesenteric desmoid tumour with the patient remaining disease-free at 10 years. This case highlights the potential for long-term complete response and underscores the need for prospective data to guide treatment duration and cessation criteria.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • PDGFRA (Platelet Derived Growth Factor Receptor Alpha)
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    imatinib • tamoxifen
    2ms
    Biomarkers in Melanoma: Updates in Prognosis and Management. (PubMed, Cancers (Basel))
    While significant progress has been made, the integration of melanoma biomarkers into routine clinical practice remains limited. This review summarizes current advancements in melanoma biomarkers, including traditional serum and immunohistochemical markers, as well as developments in molecular, genetic, circulating, and predictive biomarker approaches.
    Review • Journal
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    BRAF (B-raf proto-oncogene) • NRAS (Neuroblastoma RAS viral oncogene homolog) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • SOX10 (SRY-Box 10) • YBX1 (Y-Box Binding Protein 1) • S100B (S100 Calcium Binding Protein B)
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    BRAF mutation • NRAS mutation • KIT mutation
    2ms
    Increased Mast Cell Numbers in Bone Marrow of Patients with Myeloproliferative Neoplasms (MPN) and Pruritus. (PubMed, Turk J Haematol)
    The absolute and relative MC numbers are increased MPN patients with pruritus. Whether MC play a pathophysiological role in causing pruritus, or are bystanders remains to be determined.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • IL6 (Interleukin 6) • TNFA (Tumor Necrosis Factor-Alpha)
    2ms
    Intestinal lamina propria-type tumor stroma characterizes type 2 but not type 1 intraductal papillary neoplasm of the bile duct. (PubMed, Sci Rep)
    In conclusion, type 2 IPNB is characterized by iLP-type stroma featuring PCMLC formation and abundant IgA-P, IgG-P, and mast cell-infiltration, whereas type 1 IPNB is not. Combined IgA quantification and PCMLC detection may provide a robust diagnostic approach for IPNB typing.
    Journal
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    KIT (KIT proto-oncogene, receptor tyrosine kinase) • CD34 (CD34 molecule) • CD31 (Platelet and endothelial cell adhesion molecule 1) • PECAM1 (Platelet And Endothelial Cell Adhesion Molecule 1)