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FLT4 Gene Mutation

MedGen UID:
1380272
•Concept ID:
C4329962
•
Cell or Molecular Dysfunction
Synonyms: FMS Related Tyrosine Kinase 4 Gene Mutation; PCL Gene Mutation; Vascular Endothelial Growth Factor Receptor 3 Gene Mutation; VEGFR-3 Gene Mutation; VEGFR3 Gene Mutation; VGR3 Gene Mutation

Definition

A change in the nucleotide sequence of the FLT4 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFLT4 Gene Mutation

Professional guidelines

PubMed

MYC gene amplification by fluorescence in situ hybridization and MYC protein expression by immunohistochemistry in the diagnosis of cutaneous angiosarcoma: Systematic review and appropriate use criteria.
Motaparthi K, Lauer SR, Patel RM, Vidal CI, Linos K
J Cutan Pathol 2021 Apr;48(4):578-586. Epub 2020 Nov 16 doi: 10.1111/cup.13912. PMID: 33128474
Genetic Screening in a Large Cohort of Italian Patients Affected by Primary Lymphedema Using a Next Generation Sequencing (NGS) Approach.
Michelini S, Vettori A, Maltese PE, Cardone M, Bruson A, Fiorentino A, Cappellino F, Sainato V, Guerri G, Marceddu G, Tezzele S, Bertelli M
Lymphology 2016 Jun;49(2):57-72. PMID: 29906362
Connexin 47 mutations increase risk for secondary lymphedema following breast cancer treatment.
Finegold DN, Baty CJ, Knickelbein KZ, Perschke S, Noon SE, Campbell D, Karlsson JM, Huang D, Kimak MA, Lawrence EC, Feingold E, Meriney SD, Brufsky AM, Ferrell RE
Clin Cancer Res 2012 Apr 15;18(8):2382-90. Epub 2012 Feb 20 doi: 10.1158/1078-0432.CCR-11-2303. PMID: 22351697Free PMC Article

Recent clinical studies

Etiology

Racial/Ethnic and Sex Differences in Somatic Cancer Gene Mutations among Patients with Early-Onset Colorectal Cancer.
Holowatyj AN, Wen W, Gibbs T, Seagle HM, Keller SR, Edwards DRV, Washington MK, Eng C, Perea J, Zheng W, Guo X
Cancer Discov 2023 Mar 1;13(3):570-579. doi: 10.1158/2159-8290.CD-22-0764. PMID: 36520636Free PMC Article
Response and recurrence correlates in individuals treated with neoadjuvant anti-PD-1 therapy for resectable oral cavity squamous cell carcinoma.
Liu S, Knochelmann HM, Lomeli SH, Hong A, Richardson M, Yang Z, Lim RJ, Wang Y, Dumitras C, Krysan K, Timmers C, Romeo MJ, Krieg C, O'Quinn EC, Horton JD, Dubinett SM, Paulos CM, Neskey DM, Lo RS
Cell Rep Med 2021 Oct 19;2(10):100411. doi: 10.1016/j.xcrm.2021.100411. PMID: 34755131Free PMC Article
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin SC, Homsy J, Zaidi S, Lu Q, Morton S, DePalma SR, Zeng X, Qi H, Chang W, Sierant MC, Hung WC, Haider S, Zhang J, Knight J, Bjornson RD, Castaldi C, Tikhonoa IR, Bilguvar K, Mane SM, Sanders SJ, Mital S, Russell MW, Gaynor JW, Deanfield J, Giardini A, Porter GA Jr, Srivastava D, Lo CW, Shen Y, Watkins WS, Yandell M, Yost HJ, Tristani-Firouzi M, Newburger JW, Roberts AE, Kim R, Zhao H, Kaltman JR, Goldmuntz E, Chung WK, Seidman JG, Gelb BD, Seidman CE, Lifton RP, Brueckner M
Nat Genet 2017 Nov;49(11):1593-1601. Epub 2017 Oct 9 doi: 10.1038/ng.3970. PMID: 28991257Free PMC Article
FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.
Sheik Y, Qureshi SF, Mohhammed B, Nallari P
Lymphat Res Biol 2015 Jun;13(2):112-9. Epub 2015 Jun 2 doi: 10.1089/lrb.2014.0025. PMID: 26091406
Vascular anomalies of the head and neck: a review of genetics.
Yadav P, De Castro DK, Waner M, Meyer L, Fay A
Semin Ophthalmol 2013 Sep-Nov;28(5-6):257-66. Epub 2013 Sep 6 doi: 10.3109/08820538.2013.825279. PMID: 24010650

Diagnosis

Gene mutation analysis of oral submucous fibrosis cancerization in Hainan Island.
Li B, Chen X, Xian H, Wen Q, Wang T
PeerJ 2023;11:e16392. Epub 2023 Nov 30 doi: 10.7717/peerj.16392. PMID: 38050610Free PMC Article
Two novel variations p.(Ser1275Thr) and p.(Ser1275Arg) in FLT4 causing prenatal hereditary lymphedema type 1.
Lajmi Y, Loeuillet L, Petrilli G, Egloff C, Nectoux J, Molac C, Roux N, Pannier E, Achaiaa A, Arkoub ZA, Chuon S, Coussement A, Dupont JM, Malan V, Spaggiari E, Razavi F, Amiel J, Bessières B, Grotto S, Attié-Bitach T
Birth Defects Res 2023 Mar 15;115(5):563-571. Epub 2022 Dec 20 doi: 10.1002/bdr2.2141. PMID: 36538874
MYC gene amplification by fluorescence in situ hybridization and MYC protein expression by immunohistochemistry in the diagnosis of cutaneous angiosarcoma: Systematic review and appropriate use criteria.
Motaparthi K, Lauer SR, Patel RM, Vidal CI, Linos K
J Cutan Pathol 2021 Apr;48(4):578-586. Epub 2020 Nov 16 doi: 10.1111/cup.13912. PMID: 33128474
FOXC2 and FLT4 Gene Variants in Lymphatic Filariasis.
Sheik Y, Qureshi SF, Mohhammed B, Nallari P
Lymphat Res Biol 2015 Jun;13(2):112-9. Epub 2015 Jun 2 doi: 10.1089/lrb.2014.0025. PMID: 26091406
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
Melikhan-Revzin S, Kurolap A, Dagan E, Mory A, Gershoni-Baruch R
Lymphat Res Biol 2015 Jun;13(2):107-11. Epub 2015 Jun 2 doi: 10.1089/lrb.2014.0044. PMID: 26091405

Therapy

Response and recurrence correlates in individuals treated with neoadjuvant anti-PD-1 therapy for resectable oral cavity squamous cell carcinoma.
Liu S, Knochelmann HM, Lomeli SH, Hong A, Richardson M, Yang Z, Lim RJ, Wang Y, Dumitras C, Krysan K, Timmers C, Romeo MJ, Krieg C, O'Quinn EC, Horton JD, Dubinett SM, Paulos CM, Neskey DM, Lo RS
Cell Rep Med 2021 Oct 19;2(10):100411. doi: 10.1016/j.xcrm.2021.100411. PMID: 34755131Free PMC Article
Role of receptor tyrosine kinases mediated signal transduction pathways in tumor growth and angiogenesis-New insight and futuristic vision.
Huang XL, Khan MI, Wang J, Ali R, Ali SW, Zahra QU, Kazmi A, Lolai A, Huang YL, Hussain A, Bilal M, Li F, Qiu B
Int J Biol Macromol 2021 Jun 1;180:739-752. Epub 2021 Mar 15 doi: 10.1016/j.ijbiomac.2021.03.075. PMID: 33737188
Rare genetic variants potentially involved in ovarian hyperstimulation syndrome.
Stouffs K, Daelemans S, Santos-Ribeiro S, Seneca S, Gheldof A, Gürbüz AS, De Vos M, Tournaye H, Blockeel C
J Assist Reprod Genet 2019 Mar;36(3):491-497. Epub 2018 Nov 27 doi: 10.1007/s10815-018-1372-5. PMID: 30483911Free PMC Article
Genetic Variants of VEGFA and FLT4 Are Determinants of Survival in Renal Cell Carcinoma Patients Treated with Sorafenib.
Crona DJ, Skol AD, Leppänen VM, Glubb DM, Etheridge AS, Hilliard E, Peña CE, Peterson YK, Klauber-DeMore N, Alitalo KK, Innocenti F
Cancer Res 2019 Jan 1;79(1):231-241. Epub 2018 Nov 1 doi: 10.1158/0008-5472.CAN-18-1089. PMID: 30385613Free PMC Article
Consistent MYC and FLT4 gene amplification in radiation-induced angiosarcoma but not in other radiation-associated atypical vascular lesions.
Guo T, Zhang L, Chang NE, Singer S, Maki RG, Antonescu CR
Genes Chromosomes Cancer 2011 Jan;50(1):25-33. doi: 10.1002/gcc.20827. PMID: 20949568Free PMC Article

Prognosis

Molecular alterations and prognosis of breast cancer with cutaneous metastasis.
Xu Y, Ding L, Li C, Hua B, Wang S, Zhang J, Liu C, Guo R, Zhang Y
Diagn Pathol 2024 Jul 5;19(1):93. doi: 10.1186/s13000-024-01509-x. PMID: 38970069Free PMC Article
Response and recurrence correlates in individuals treated with neoadjuvant anti-PD-1 therapy for resectable oral cavity squamous cell carcinoma.
Liu S, Knochelmann HM, Lomeli SH, Hong A, Richardson M, Yang Z, Lim RJ, Wang Y, Dumitras C, Krysan K, Timmers C, Romeo MJ, Krieg C, O'Quinn EC, Horton JD, Dubinett SM, Paulos CM, Neskey DM, Lo RS
Cell Rep Med 2021 Oct 19;2(10):100411. doi: 10.1016/j.xcrm.2021.100411. PMID: 34755131Free PMC Article
Differences in Genomic Alterations Between Brain Metastases and Primary Tumors.
Dono A, Takayasu T, Yan Y, Bundrant BE, Arevalo O, Lopez-Garcia CA, Esquenazi Y, Ballester LY
Neurosurgery 2021 Feb 16;88(3):592-602. doi: 10.1093/neuros/nyaa471. PMID: 33369669
Genetic Variants of VEGFA and FLT4 Are Determinants of Survival in Renal Cell Carcinoma Patients Treated with Sorafenib.
Crona DJ, Skol AD, Leppänen VM, Glubb DM, Etheridge AS, Hilliard E, Peña CE, Peterson YK, Klauber-DeMore N, Alitalo KK, Innocenti F
Cancer Res 2019 Jan 1;79(1):231-241. Epub 2018 Nov 1 doi: 10.1158/0008-5472.CAN-18-1089. PMID: 30385613Free PMC Article
Recurrent CIC Gene Abnormalities in Angiosarcomas: A Molecular Study of 120 Cases With Concurrent Investigation of PLCG1, KDR, MYC, and FLT4 Gene Alterations.
Huang SC, Zhang L, Sung YS, Chen CL, Kao YC, Agaram NP, Singer S, Tap WD, D'Angelo S, Antonescu CR
Am J Surg Pathol 2016 May;40(5):645-55. doi: 10.1097/PAS.0000000000000582. PMID: 26735859Free PMC Article

Clinical prediction guides

Racial/Ethnic and Sex Differences in Somatic Cancer Gene Mutations among Patients with Early-Onset Colorectal Cancer.
Holowatyj AN, Wen W, Gibbs T, Seagle HM, Keller SR, Edwards DRV, Washington MK, Eng C, Perea J, Zheng W, Guo X
Cancer Discov 2023 Mar 1;13(3):570-579. doi: 10.1158/2159-8290.CD-22-0764. PMID: 36520636Free PMC Article
Response and recurrence correlates in individuals treated with neoadjuvant anti-PD-1 therapy for resectable oral cavity squamous cell carcinoma.
Liu S, Knochelmann HM, Lomeli SH, Hong A, Richardson M, Yang Z, Lim RJ, Wang Y, Dumitras C, Krysan K, Timmers C, Romeo MJ, Krieg C, O'Quinn EC, Horton JD, Dubinett SM, Paulos CM, Neskey DM, Lo RS
Cell Rep Med 2021 Oct 19;2(10):100411. doi: 10.1016/j.xcrm.2021.100411. PMID: 34755131Free PMC Article
The physiological and pathological functions of VEGFR3 in cardiac and lymphatic development and related diseases.
Monaghan RM, Page DJ, Ostergaard P, Keavney BD
Cardiovasc Res 2021 Jul 7;117(8):1877-1890. doi: 10.1093/cvr/cvaa291. PMID: 33067626Free PMC Article
A Novel Missense Mutation in FLT4 Causes Autosomal Recessive Hereditary Lymphedema.
Melikhan-Revzin S, Kurolap A, Dagan E, Mory A, Gershoni-Baruch R
Lymphat Res Biol 2015 Jun;13(2):107-11. Epub 2015 Jun 2 doi: 10.1089/lrb.2014.0044. PMID: 26091405
FLT4/VEGFR3 and Milroy disease: novel mutations, a review of published variants and database update.
Gordon K, Spiden SL, Connell FC, Brice G, Cottrell S, Short J, Taylor R, Jeffery S, Mortimer PS, Mansour S, Ostergaard P
Hum Mutat 2013 Jan;34(1):23-31. Epub 2012 Oct 16 doi: 10.1002/humu.22223. PMID: 23074044

Recent systematic reviews

MYC gene amplification by fluorescence in situ hybridization and MYC protein expression by immunohistochemistry in the diagnosis of cutaneous angiosarcoma: Systematic review and appropriate use criteria.
Motaparthi K, Lauer SR, Patel RM, Vidal CI, Linos K
J Cutan Pathol 2021 Apr;48(4):578-586. Epub 2020 Nov 16 doi: 10.1111/cup.13912. PMID: 33128474

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