Keratinocytic epidermal nevi are associated with mosaic RAS mutations

Journal of Medical Genetics

Volumn 49, Issue 4, 2012, Pages 249-253

  Hafner, Christian ^a   Toll, Agusti ^b   Gantner, Susanne ^a   Mauerer, Andreas ^a   Lurkin, Irene ^c   Acquadro, Francesco ^d   Fernández Casado, Alejandro ^b   Zwarthoff, Ellen C ^c   Dietmaier, Wolfgang ^a   Baselga, Eulalia ^e   Parera, Elisabet ^b   Vicente, Asunción ^f   Casanova, Ariel ^d   Cigudosa, Juan ^d   Mentzel, Thomas ^g   Pujol, Ramon M ^b   Landthaler, Michael ^a   Real, Francisco X ^d,h  

^a UNIVERSITY OF REGENSBURG   (Germany)

^b UNIVERSITAT AUTÒNOMA DE BARCELONA   (Spain)

^c JOSEPHINE NEFKENS INSTITUTE   (Netherlands)

^d Centro Nacional de Investigaciones Oncológicas   (Spain)

^e HOSPITAL DE LA SANTA CREU I SANT PAU   (Spain)

^f UNIVERSITY OF BARCELONA   (Spain)

^g Dermatopathologische Gemeinschaftspraxis   (Germany)

^h UNIVERSITAT POMPEU FABRA   (Spain)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ADULT; AGED; ARTICLE; CHILD; FEMALE; FGFR3 GENE; GENE; GENE ACTIVATION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SCREENING; HUMAN; HUMAN TISSUE; KERATINOCYTIC EPIDERMAL NEVI; MAJOR CLINICAL STUDY; MALE; MOSAICISM; NEVUS; ONCOGENE RAS; PIK3CA GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; EPIDERMIS; FEMALE; GENES, RAS; HUMANS; KERATINOCYTES; MALE; MOSAICISM; MUTATION; NEVUS; PHOSPHATIDYLINOSITOL 3-KINASES; RECEPTOR, FIBROBLAST GROWTH FACTOR, TYPE 3; SKIN NEOPLASMS; YOUNG ADULT;

EID: 84864078171     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmedgenet-2011-100637     Document Type: Article

References (23)

1. Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007;7:295-308.
2. Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, Filocamo M, Kato K, Suzuki Y, Kure S, Matsubara Y. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005;37:1038-40.
3. Franceschini P, Licata D, Di Cara G, Guala A, Bianchi M, Ingrosso G, Franceschini D. Bladder carcinoma in Costello syndrome: report on a patient born to consanguineous parents and review. Am J Med Genet 1999;86:174-9.
4. Schubbert S, Zenker M, Rowe SL, Boll S, Klein C, Bollag G, van der Burgt I, Musante L, Kalscheuer V, Wehner LE, Nguyen H, West B, Zhang KY, Sistermans E, Rauch A, Niemeyer CM, Shannon K, Kratz CP. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006;38:331-6.
5. Niihori T, Aoki Y, Narumi Y, Neri G, Cave H, Verloes A, Okamoto N, Hennekam RC, Gillessen-Kaesbach G, Wieczorek D, Kavamura MI, Kurosawa K, Ohashi H, Wilson L, Heron D, Bonneau D, Corona G, Kaname T, Naritomi K, Baumann C, Matsumoto N, Kato K, Kure S, Matsubara Y. Germline KRAS and BRAF mutations in cardio-faciocutaneous syndrome. Nat Genet 2006;38:294-6.
6. Cirstea IC, Kutsche K, Dvorsky R, Gremer L, Carta C, Horn D, Roberts AE, Lepri F, Merbitz-Zahradnik T, Konig R, Kratz CP, Pantaleoni F, Dentici ML, Joshi VA, Kucherlapati RS, Mazzanti L, Mundlos S, Patton MA, Silengo MC, Rossi C, Zampino G, Digilio C, Stuppia L, Seemanova E, Pennacchio LA, Gelb BD, Dallapiccola B, Wittinghofer A, Ahmadian MR, Tartaglia M, Zenker M. A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 2010;42:27-9.
7. Hafner C, Lopez-Knowles E, Luis NM, Toll A, Baselga E, Fernandez-Casado A, Hernandez S, Ribe A, Mentzel T, Stoehr R, Hofstaedter F, Landthaler M, Vogt T, Pujol RM, Hartmann A, Real FX. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci U S A 2007;104:13450-4.
8. Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, Hofstaedter F, Zwarthoff EC, Hartmann A. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006;116:2201-7.
9. Lurkin I, Stoehr R, Hurst CD, van Tilborg AA, Knowles MA, Hartmann A, Zwarthoff EC. Two multiplex assays that simultaneously identify 22 possible mutation sites in the KRAS, BRAF, NRAS and PIK3CA genes. PLoS One 2010;5:e8802.
10. Hurst CD, Zuiverloon TC, Hafner C, Zwarthoff EC, Knowles MA. A SNaPshot assay for the rapid and simple detection of four common hotspot codon mutations in the PIK3CA gene. BMC Res Notes 2009;2:66.
11. Hafner C, Toll A, Fernandez-Casado A, Earl J, Marques M, Acquadro F, Mendez- Pertuz M, Urioste M, Malats N, Burns JE, Knowles MA, Cigudosa JC, Hartmann A, Vogt T, Landthaler M, Pujol RM, Real FX. Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors. Proc Natl Acad Sci U S A 2010;107:20780-5.
12. Thomas RK, Baker AC, Debiasi RM, Winckler W, Laframboise T, Lin WM, Wang M, Feng W, Zander T, Macconnaill LE, Lee JC, Nicoletti R, Hatton C, Goyette M, Girard L, Majmudar K, Ziaugra L, Wong KK, Gabriel S, Beroukhim R, Peyton M, Barretina J, Dutt A, Emery C, Greulich H, Shah K, Sasaki H, Gazdar A, Minna J, Armstrong SA, Mellinghoff IK, Hodi FS, Dranoff G, Mischel PS, Cloughesy TF, Nelson SF, Liau LM, Mertz K, Rubin MA, Moch H, Loda M, Catalona W, Fletcher J, Signoretti S, Kaye F, Anderson KC, Demetri GD, Dummer R, Wagner S, Herlyn M, Sellers WR, Meyerson M, Garraway LA. High-throughput oncogene mutation profiling in human cancer. Nat Genet 2007;39:347-51.
13. Jebar AH, Hurst CD, Tomlinson DC, Johnston C, Taylor CF, Knowles MA. FGFR3 and Ras gene mutations are mutually exclusive genetic events in urothelial cell carcinoma. Oncogene 2005;24:5218-25.
14. Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009;19:230-6.
15. Gripp KW, Lin AE. Costello syndrome: A Ras/mitogen activated protein kinase pathway syndrome (rasopathy) resulting from HRAS germline mutations. Genet Med 2012;14:285-92.
16. Siegel DH, Mann JA, Krol AL, Rauen KA. Dermatological phenotype in costello syndrome: consequences of ras dysregulation in development. Br J Dermatol 2012;166:601-7.
17. Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, Nicholson L, Gripp KW. Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism. Am J Med Genet A 2009;149A:315-21.
18. Bourdeaut F, Herault A, Gentien D, Pierron G, Ballet S, Reynaud S, Paris R, Schleiermacher G, Baumann C, Philippe-Chomette P, Gauthier-Villars M, Peuchmaur M, Radvanyi F, Delattre O. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010;47:859-62.
19. Tuveson DA, Shaw AT, Willis NA, Silver DP, Jackson EL, Chang S, Mercer KL, Grochow R, Hock H, Crowley D, Hingorani SR, Zaks T, King C, Jacobetz MA, Wang L, Bronson RT, Orkin SH, DePinho RA, Jacks T. Endogenous oncogenic K-ras(G12D) stimulates proliferation and widespread neoplastic and developmental defects. Cancer Cell 2004;5:375-87.
20. Eisen DB, Michael DJ. Sebaceous lesions and their associated syndromes: part II. J Am Acad Dermatol 2009;61:563e78; quiz 79-80.
21. Kratz CP, Rapisuwon S, Reed H, Hasle H, Rosenberg PS. Cancer in Noonan, Costello, cardiofaciocutaneous and LEOPARD syndromes. Am J Med Genet C Semin Med Genet 2011;157:83-9.
22. Flosadottir E, Bjarnason B. A non-epidermolytic epidermal naevus of a soft, papillomatous type with transitional cell cancer of the bladder: a case report and a review of non-cutaneous cancers associated with the epidermal naevi. Acta Derm Venereol 2008;88:173-5.
23. Hafner C, Toll A, Real FX. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 2011;365:1940-2.