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MAP2K2 Gene Mutation

MedGen UID:
1664546
•Concept ID:
C4727126
•
Cell or Molecular Dysfunction
Synonyms: MAPKK2 Gene Mutation; MEK2 Gene Mutation; Mitogen-Activated Protein Kinase Kinase 2 Gene Mutation; MKK2 Gene Mutation; PRKMK2 Gene Mutation

Definition

A change in the nucleotide sequence of the MAP2K2 gene. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMAP2K2 Gene Mutation

Professional guidelines

PubMed

Cardio-facio-cutaneous syndrome: does genotype predict phenotype?
Allanson JE, Annerén G, Aoki Y, Armour CM, Bondeson ML, Cave H, Gripp KW, Kerr B, Nystrom AM, Sol-Church K, Verloes A, Zenker M
Am J Med Genet C Semin Med Genet 2011 May 15;157C(2):129-35. Epub 2011 Apr 14 doi: 10.1002/ajmg.c.30295. PMID: 21495173Free PMC Article
Spectrum of MEK1 and MEK2 gene mutations in cardio-facio-cutaneous syndrome and genotype-phenotype correlations.
Dentici ML, Sarkozy A, Pantaleoni F, Carta C, Lepri F, Ferese R, Cordeddu V, Martinelli S, Briuglia S, Digilio MC, Zampino G, Tartaglia M, Dallapiccola B
Eur J Hum Genet 2009 Jun;17(6):733-40. Epub 2009 Jan 21 doi: 10.1038/ejhg.2008.256. PMID: 19156172Free PMC Article
Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype-phenotype relationships and overlap with Costello syndrome.
Nava C, Hanna N, Michot C, Pereira S, Pouvreau N, Niihori T, Aoki Y, Matsubara Y, Arveiler B, Lacombe D, Pasmant E, Parfait B, Baumann C, Héron D, Sigaudy S, Toutain A, Rio M, Goldenberg A, Leheup B, Verloes A, Cavé H
J Med Genet 2007 Dec;44(12):763-71. Epub 2007 Aug 17 doi: 10.1136/jmg.2007.050450. PMID: 17704260Free PMC Article

Recent clinical studies

Etiology

Genetic and epigenetic characterization of posterior pituitary tumors.
Schmid S, Solomon DA, Perez E, Thieme A, Kleinschmidt-DeMasters BK, Giannini C, Reinhardt A, Asa SL, Mete O, Stichel D, Siewert C, Dittmayer C, Hasselblatt M, Paulus W, Nagel C, Harter PN, Schittenhelm J, Honegger J, Rushing E, Coras R, Pfister SM, Buslei R, Koch A, Perry A, Jones DTW, von Deimling A, Capper D, Lopes MB
Acta Neuropathol 2021 Dec;142(6):1025-1043. Epub 2021 Oct 18 doi: 10.1007/s00401-021-02377-1. PMID: 34661724Free PMC Article
MEK1/2 activity modulates TREM2 cell surface recruitment.
Schapansky J, Grinberg YY, Osiecki DM, Freeman EA, Walker SG, Karran E, Gopalakrishnan SM, Talanian RV
J Biol Chem 2021 Jan-Jun;296:100218. Epub 2020 Dec 25 doi: 10.1074/jbc.RA120.014352. PMID: 33839686Free PMC Article
The histopathology of Erdheim-Chester disease: a comprehensive review of a molecularly characterized cohort.
Ozkaya N, Rosenblum MK, Durham BH, Pichardo JD, Abdel-Wahab O, Hameed MR, Busam KJ, Travis WD, Diamond EL, Dogan A
Mod Pathol 2018 Apr;31(4):581-597. Epub 2017 Dec 1 doi: 10.1038/modpathol.2017.160. PMID: 29192649Free PMC Article
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE
Nat Genet 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026. PMID: 22197931

Diagnosis

The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G
Genes (Basel) 2023 Nov 22;14(12) doi: 10.3390/genes14122111. PMID: 38136934Free PMC Article
Characterization of bone homeostasis in individuals affected by cardio-facio-cutaneous syndrome.
Leoni C, Viscogliosi G, Onesimo R, Bisanti C, Massese M, Giorgio V, Corbo F, Tedesco M, Acampora A, Cipolla C, Dell'Atti C, Flex E, Gervasoni J, Primiano A, Rigante D, Tartaglia M, Zampino G
Am J Med Genet A 2022 Feb;188(2):414-421. Epub 2021 Dec 2 doi: 10.1002/ajmg.a.62588. PMID: 34854525
MEK1/2 activity modulates TREM2 cell surface recruitment.
Schapansky J, Grinberg YY, Osiecki DM, Freeman EA, Walker SG, Karran E, Gopalakrishnan SM, Talanian RV
J Biol Chem 2021 Jan-Jun;296:100218. Epub 2020 Dec 25 doi: 10.1074/jbc.RA120.014352. PMID: 33839686Free PMC Article
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA
Genet Med 2019 Feb;21(2):417-425. Epub 2018 Jun 15 doi: 10.1038/s41436-018-0062-0. PMID: 29907801
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J
Am J Med Genet A 2018 Jul;176(7):1670-1674. Epub 2018 May 25 doi: 10.1002/ajmg.a.38837. PMID: 29799162

Therapy

Personalized and targeted mutational analysis of multiple second primary melanomas under kinase inhibitors.
Donati M, Zelano G, Coppola R, Cinelli E, Verri M, Persichetti P, Perrella E, Devirgiliis V, Calvieri S, Crescenzi A, Panasiti V
Ital J Dermatol Venerol 2021 Oct;156(5):593-598. Epub 2019 Dec 4 doi: 10.23736/S2784-8671.19.06516-7. PMID: 31804055
Cancer resistance to therapies against the EGFR-RAS-RAF pathway: The role of MEK.
Martinelli E, Morgillo F, Troiani T, Ciardiello F
Cancer Treat Rev 2017 Feb;53:61-69. Epub 2016 Dec 30 doi: 10.1016/j.ctrv.2016.12.001. PMID: 28073102
The clinical development of MEK inhibitors.
Zhao Y, Adjei AA
Nat Rev Clin Oncol 2014 Jul;11(7):385-400. Epub 2014 May 20 doi: 10.1038/nrclinonc.2014.83. PMID: 24840079
High-throughput sequencing of the melanoma genome.
Kunz M, Dannemann M, Kelso J
Exp Dermatol 2013 Jan;22(1):10-7. Epub 2012 Nov 22 doi: 10.1111/exd.12054. PMID: 23174022
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma.
Nikolaev SI, Rimoldi D, Iseli C, Valsesia A, Robyr D, Gehrig C, Harshman K, Guipponi M, Bukach O, Zoete V, Michielin O, Muehlethaler K, Speiser D, Beckmann JS, Xenarios I, Halazonetis TD, Jongeneel CV, Stevenson BJ, Antonarakis SE
Nat Genet 2011 Dec 25;44(2):133-9. doi: 10.1038/ng.1026. PMID: 22197931

Prognosis

DNA Copy Number Alterations and Copy Neutral Loss of Heterozygosity in Adult Ph-Negative Acute B-Lymphoblastic Leukemia: Focus on the Genes Involved.
Risinskaya N, Gladysheva M, Abdulpatakhov A, Chabaeva Y, Surimova V, Aleshina O, Yushkova A, Dubova O, Kapranov N, Galtseva I, Kulikov S, Obukhova T, Sudarikov A, Parovichnikova E
Int J Mol Sci 2023 Dec 18;24(24) doi: 10.3390/ijms242417602. PMID: 38139431Free PMC Article
The Cardiofaciocutaneous Syndrome: From Genetics to Prognostic-Therapeutic Implications.
Scorrano G, David E, Calì E, Chimenz R, La Bella S, Di Ludovico A, Di Rosa G, Gitto E, Mankad K, Nardello R, Mangano GD, Leoni C, Ceravolo G
Genes (Basel) 2023 Nov 22;14(12) doi: 10.3390/genes14122111. PMID: 38136934Free PMC Article
Characterization of the genomic alterations in poorly differentiated thyroid cancer.
Lee Y, Moon S, Seok JY, Lee JH, Nam S, Chung YS
Sci Rep 2023 Nov 6;13(1):19154. doi: 10.1038/s41598-023-46466-5. PMID: 37932340Free PMC Article
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J
Am J Med Genet A 2018 Jul;176(7):1670-1674. Epub 2018 May 25 doi: 10.1002/ajmg.a.38837. PMID: 29799162
The clinical development of MEK inhibitors.
Zhao Y, Adjei AA
Nat Rev Clin Oncol 2014 Jul;11(7):385-400. Epub 2014 May 20 doi: 10.1038/nrclinonc.2014.83. PMID: 24840079

Clinical prediction guides

Human Genetics of Atrial Septal Defect.
Larsen LA, Hitz MP
Adv Exp Med Biol 2024;1441:467-480. doi: 10.1007/978-3-031-44087-8_24. PMID: 38884726
Comparative assessment of gene-specific variant distribution in prenatal and postnatal cohorts tested for Noonan syndrome and related conditions.
Leach NT, Wilson Mathews DR, Rosenblum LS, Zhou Z, Zhu H, Heim RA
Genet Med 2019 Feb;21(2):417-425. Epub 2018 Jun 15 doi: 10.1038/s41436-018-0062-0. PMID: 29907801
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Gos M, Smigiel R, Kaczan T, Landowska A, Abramowicz A, Sasiadek M, Bal J
Am J Med Genet A 2018 Jul;176(7):1670-1674. Epub 2018 May 25 doi: 10.1002/ajmg.a.38837. PMID: 29799162
The clinical development of MEK inhibitors.
Zhao Y, Adjei AA
Nat Rev Clin Oncol 2014 Jul;11(7):385-400. Epub 2014 May 20 doi: 10.1038/nrclinonc.2014.83. PMID: 24840079
Deletion of MAP2K2/MEK2: a novel mechanism for a RASopathy?
Nowaczyk MJ, Thompson BA, Zeesman S, Moog U, Sanchez-Lara PA, Magoulas PL, Falk RE, Hoover-Fong JE, Batista DA, Amudhavalli SM, White SM, Graham GE, Rauen KA
Clin Genet 2014 Feb;85(2):138-46. Epub 2013 Apr 2 doi: 10.1111/cge.12116. PMID: 23379592Free PMC Article

Recent systematic reviews

The Predictive Value of MAP2K1/2 Mutations on Efficiency of Immunotherapy in Melanoma.
Ye T, Zhang JY, Liu XY, Zhou YH, Yuan SY, Yang MM, Xie WZ, Gao C, Chen YX, Huang ML, Ye CZ, Chen J
Front Immunol 2021;12:785526. Epub 2022 Jan 6 doi: 10.3389/fimmu.2021.785526. PMID: 35069558Free PMC Article

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