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    BIOMARKER:

    KDR Q472H

    i
    Other names: KDR, CD309, FLK1, VEGFR, VEGFR2, Kinase insert domain receptor (a type III receptor tyrosine kinase)
    Entrez ID:
    3791
    Related biomarkers:
    Expression
    Mutation
    CNA
    Others
    10ms
    Giant skull base periosteal chondroma treated with endonasal endoscopic surgery: illustrative case. (PubMed, J Neurosurg Case Lessons)
    This is the first known report of skull base periosteal chondroma. Genetic testing was useful for confirming the diagnosis, and EES was effective for treatment. Should such a tumor show adhesion to an important structure, an intracapsular excision can be beneficial for avoiding complications.
    Journal • Surgery
    |
    TP53 (Tumor protein P53) • IDH1 (Isocitrate dehydrogenase (NADP(+)) 1) • IDH2 (Isocitrate Dehydrogenase (NADP(+)) 2) • KDR (Kinase insert domain receptor)
    |
    IDH1 R132C • IDH1 R132 • KDR Q472H
    11ms
    Kinase Insert Domain Receptor Q472H Pathogenic Germline Variant Impacts Melanoma Tumor Growth and Patient Treatment Outcomes. (PubMed, Cancers (Basel))
    Our data demonstrate a role of germline KDR-Var in modulating melanoma behavior, including response to treatment. Our data also suggest that anti-angiogenic therapy might be beneficial in patients harboring this genotype, which needs to be tested in clinical trials.
    Journal • PD(L)-1 Biomarker • IO biomarker
    |
    KDR (Kinase insert domain receptor) • PTPRC (Protein Tyrosine Phosphatase Receptor Type C)
    |
    KDR Q472H
    |
    Tafinlar (dabrafenib) • Lenvima (lenvatinib)
    1year
    Everolimus in combination with vandetanib in children, adolescents, and young adults: a phase I study. (PubMed, ESMO Open)
    The combination of vandetanib and everolimus showed early activity and tolerable toxicity profile in pediatric patients with advanced cancers.
    P1 data • Journal • Combination therapy
    |
    CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KDR (Kinase insert domain receptor) • CDKN2B (Cyclin Dependent Kinase Inhibitor 2B) • EWSR1 (EWS RNA Binding Protein 1) • TFE3 (Transcription Factor Binding To IGHM Enhancer 3) • ASPSCR1 (ASPSCR1 Tether For SLC2A4) • CREB3L1 (CAMP Responsive Element Binding Protein 3 Like 1)
    |
    EWSR1 mutation • KDR Q472H • TFE3 fusion
    |
    everolimus • Caprelsa (vandetanib)
    over2years
    Microcystic stromal tumor of the ovary: a recurrent case with somatic CTNNB1 missense mutation. (PubMed, Virchows Arch)
    Mutation analysis of the recurrent tumor revealed a somatic CTNNB1 p.S33Y activated missense mutation and a germline KDR p.Q472H variant. In conclusion, long-term clinical follow-up may be needed to detect any recurrence of MCST, irrespective of familial adenomatous polyposis.
    Journal
    |
    KDR (Kinase insert domain receptor) • CTNNB1 (Catenin (cadherin-associated protein), beta 1)
    |
    CTNNB1 mutation • KDR Q472H
    over3years
    HPV-negative Squamous Cell Carcinomas of the Cervix With Special Focus on Intraepithelial Precursor Lesions. (PubMed, Am J Surg Pathol)
    In conclusion, HPV-negative intraepithelial cervical precancerous lesions exist, either as highly differentiated keratinized intraepithelial proliferations reminiscent of differentiated vulvar intraepithelial neoplasia, or undifferentiated basaloid intraepithelial lesions with occasional p16ink4a block staining resembling high-grade squamous intraepithelial lesion. Gains of chromosome 3q, angiogenic germline variants the inflammatory infiltrate may contribute to progression of HPV-negative cervical carcinogenesis.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • STK11 (Serine/threonine kinase 11) • CDKN2A (Cyclin Dependent Kinase Inhibitor 2A) • KDR (Kinase insert domain receptor) • GNAS (GNAS Complex Locus)
    |
    TP53 mutation • PIK3CA mutation • STK11 mutation • CDKN2A negative • TP53 overexpression • KDR Q472H • CDKN2A expression
    4years
    The KDR (VEGFR-2) Genetic Polymorphism Q472H and c-KIT Polymorphism M541L Are Associated With More Aggressive Behaviour in Astrocytic Gliomas. (PubMed, Cancer Genomics Proteomics)
    This study highlights the role of single-nucleotide variants (SNVs) that may be considered non-pathogenic and suggests the prognostic significance for survival of KIT rs3822214 and KDR rs1870377 and potential importance in planning new treatment strategies for gliomas.
    Journal
    |
    TP53 (Tumor protein P53) • PIK3CA (Phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha) • KIT (KIT proto-oncogene, receptor tyrosine kinase) • KDR (Kinase insert domain receptor) • CD34 (CD34 molecule)
    |
    KDR Q472H • KIT M541L
    over4years
    [VIRTUAL] Association of pathogenic germline variant KDR Q472H with angiogenesis and resistance to treatment in melanoma. (ASCO 2020)
    Synergy between BRAF (dabrafenib) and VEGFR-2 (lenvatinib) inhibitors in KDR-genotyped MM cell lines was assessed using cell proliferation assays and the Chou-Talalay method. Our data demonstrate that melanoma patients with pathogenic germline variant KDR Q472H may be more resistant to both ICIs and MAPKi. Anti-angiogenic therapy should be reconsidered within this specific subset of patients in prospective clinical trials. Research Funding: P50 CA225450 NYU Melanoma SPORE, P30 CA016087 Cancer Center Support Grant
    PD(L)-1 Biomarker • IO biomarker
    |
    BRAF (B-raf proto-oncogene) • KDR (Kinase insert domain receptor) • CD34 (CD34 molecule)
    |
    KDR Q472H
    |
    Tafinlar (dabrafenib) • Lenvima (lenvatinib)