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Review

Mosaic RASopathies

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Pages 43-50 | Published online: 19 Dec 2012

References

  • Donovan S, Shannon KM, Bollag G. GTPase activating proteins: critical regulators of intracellular signaling. Biochim Biophys Acta 2002; 1602:23 - 45; PMID: 11960693
  • Bourne HR, Sanders DA, McCormick F. The GTPase superfamily: conserved structure and molecular mechanism. Nature 1991; 349:117 - 27; http://dx.doi.org/10.1038/349117a0; PMID: 1898771
  • Schubbert S, Shannon K, Bollag G. Hyperactive Ras in developmental disorders and cancer. Nat Rev Cancer 2007; 7:295 - 308; http://dx.doi.org/10.1038/nrc2109; PMID: 17384584
  • Tidyman WE, Rauen KA. The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 2009; 19:230 - 6; http://dx.doi.org/10.1016/j.gde.2009.04.001; PMID: 19467855
  • Boon LM, Mulliken JB, Vikkula M. RASA1: variable phenotype with capillary and arteriovenous malformations. Curr Opin Genet Dev 2005; 15:265 - 9; http://dx.doi.org/10.1016/j.gde.2005.03.004; PMID: 15917201
  • Eerola I, Boon LM, Mulliken JB, Burrows PE, Dompmartin A, Watanabe S, et al. Capillary malformation-arteriovenous malformation, a new clinical and genetic disorder caused by RASA1 mutations. Am J Hum Genet 2003; 73:1240 - 9; http://dx.doi.org/10.1086/379793; PMID: 14639529
  • Happle R. Lethal genes surviving by mosaicism: a possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 1987; 16:899 - 906; http://dx.doi.org/10.1016/S0190-9622(87)80249-9; PMID: 3033033
  • Hafner C, Toll A, Gantner S, Mauerer A, Lurkin I, Acquadro F, et al. Keratinocytic epidermal nevi are associated with mosaic RAS mutations. J Med Genet 2012; 49:249 - 53; http://dx.doi.org/10.1136/jmedgenet-2011-100637; PMID: 22499344
  • Happle R. Mosaicism in human skin. Understanding the patterns and mechanisms. Arch Dermatol 1993; 129:1460 - 70; http://dx.doi.org/10.1001/archderm.1993.01680320094012; PMID: 8239703
  • Happle R, Rogers M. Epidermal nevi. Adv Dermatol 2002; 18:175 - 201; PMID: 12528406
  • Happle R. The group of epidermal nevus syndromes Part I. Well defined phenotypes. J Am Acad Dermatol 2010; 63:1 - 22, quiz 23-4; http://dx.doi.org/10.1016/j.jaad.2010.01.017; PMID: 20542174
  • Sugarman JL. Epidermal nevus syndromes. Semin Cutan Med Surg 2004; 23:145 - 57; http://dx.doi.org/10.1016/j.sder.2004.01.008; PMID: 15295924
  • Hafner C, López-Knowles E, Luis NM, Toll A, Baselga E, Fernández-Casado A, et al. Oncogenic PIK3CA mutations occur in epidermal nevi and seborrheic keratoses with a characteristic mutation pattern. Proc Natl Acad Sci USA 2007; 104:13450 - 4; http://dx.doi.org/10.1073/pnas.0705218104; PMID: 17673550
  • Hafner C, van Oers JM, Vogt T, Landthaler M, Stoehr R, Blaszyk H, et al. Mosaicism of activating FGFR3 mutations in human skin causes epidermal nevi. J Clin Invest 2006; 116:2201 - 7; http://dx.doi.org/10.1172/JCI28163; PMID: 16841094
  • Hafner C, Di Martino E, Pitt E, Stempfl T, Tomlinson D, Hartmann A, et al. FGFR3 mutation affects cell growth, apoptosis and attachment in keratinocytes. Exp Cell Res 2010; 316:2008 - 16; http://dx.doi.org/10.1016/j.yexcr.2010.04.021; PMID: 20420824
  • di Martino E, L’Hôte CG, Kennedy W, Tomlinson DC, Knowles MA. Mutant fibroblast growth factor receptor 3 induces intracellular signaling and cellular transformation in a cell type- and mutation-specific manner. Oncogene 2009; 28:4306 - 16; http://dx.doi.org/10.1038/onc.2009.280; PMID: 19749790
  • Vujevich JJ, Mancini AJ. The epidermal nevus syndromes: multisystem disorders. J Am Acad Dermatol 2004; 50:957 - 61; http://dx.doi.org/10.1016/S0190-9622(02)61547-6; PMID: 15153903
  • Bourdeaut F, Hérault A, Gentien D, Pierron G, Ballet S, Reynaud S, et al. Mosaicism for oncogenic G12D KRAS mutation associated with epidermal nevus, polycystic kidneys and rhabdomyosarcoma. J Med Genet 2010; 47:859 - 62; http://dx.doi.org/10.1136/jmg.2009.075374; PMID: 20805368
  • Hafner C, Toll A, Real FX. HRAS mutation mosaicism causing urothelial cancer and epidermal nevus. N Engl J Med 2011; 365:1940 - 2; http://dx.doi.org/10.1056/NEJMc1109381; PMID: 22087699
  • Bygum A, Fagerberg CR, Clemmensen OJ, Fiebig B, Hafner C. Systemic epidermal nevus with involvement of the oral mucosa due to FGFR3 mutation. BMC Med Genet 2011; 12:79; http://dx.doi.org/10.1186/1471-2350-12-79; PMID: 21639936
  • Collin B, Taylor IB, Wilkie AO, Moss C. Fibroblast growth factor receptor 3 (FGFR3) mutation in a verrucous epidermal naevus associated with mild facial dysmorphism. Br J Dermatol 2007; 156:1353 - 6; http://dx.doi.org/10.1111/j.1365-2133.2007.07869.x; PMID: 17441958
  • García-Vargas A, Hafner C, Pérez-Rodríguez AG, Rodríguez-Rojas LX, González-Esqueda P, Stoehr R, et al. An epidermal nevus syndrome with cerebral involvement caused by a mosaic FGFR3 mutation. Am J Med Genet A 2008; 146A:2275 - 9; http://dx.doi.org/10.1002/ajmg.a.32429; PMID: 18642369
  • Ousager LB, Bygum A, Hafner C. Identification of a novel S249C FGFR3 mutation in a keratinocytic epidermal naevus syndrome. Br J Dermatol 2012; 167:202 - 4; http://dx.doi.org/10.1111/j.1365-2133.2012.10812.x; PMID: 22229528
  • Moody MN, Landau JM, Goldberg LH. Nevus sebaceous revisited. Pediatr Dermatol 2012; 29:15 - 23; http://dx.doi.org/10.1111/j.1525-1470.2011.01562.x; PMID: 21995782
  • Groesser L, Herschberger E, Ruetten A, Ruivenkamp C, Lopriore E, Zutt M, et al. Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 2012; 44:783 - 7; http://dx.doi.org/10.1038/ng.2316; PMID: 22683711
  • Schimmelpenning GW. [Clinical contribution to symptomatology of phacomatosis]. Fortschr Geb Rontgenstr Nuklearmed 1957; 87:716 - 20; http://dx.doi.org/10.1055/s-0029-1213358; PMID: 13512450
  • Davies D, Rogers M. Review of neurological manifestations in 196 patients with sebaceous naevi. Australas J Dermatol 2002; 43:20 - 3; http://dx.doi.org/10.1046/j.1440-0960.2002.00546.x; PMID: 11869203
  • Rijntjes-Jacobs EG, Lopriore E, Steggerda SJ, Kant SG, Walther FJ. Discordance for Schimmelpenning-Feuerstein-Mims syndrome in monochorionic twins supports the concept of a postzygotic mutation. Am J Med Genet A 2010; 152A:2816 - 9; http://dx.doi.org/10.1002/ajmg.a.33635; PMID: 20949522
  • Zutt M, Strutz F, Happle R, Habenicht EM, Emmert S, Haenssle HA, et al. Schimmelpenning-Feuerstein-Mims syndrome with hypophosphatemic rickets. Dermatology 2003; 207:72 - 6; http://dx.doi.org/10.1159/000070948; PMID: 12835555
  • Aoki Y, Niihori T, Kawame H, Kurosawa K, Ohashi H, Tanaka Y, et al. Germline mutations in HRAS proto-oncogene cause Costello syndrome. Nat Genet 2005; 37:1038 - 40; http://dx.doi.org/10.1038/ng1641; PMID: 16170316
  • 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; http://dx.doi.org/10.1038/gim.0b013e31822dd91f; PMID: 22261753
  • Gripp KW, Stabley DL, Nicholson L, Hoffman JD, Sol-Church K. Somatic mosaicism for an HRAS mutation causes Costello syndrome. Am J Med Genet A 2006; 140:2163 - 9; http://dx.doi.org/10.1002/ajmg.a.31456; PMID: 16969868
  • Sol-Church K, Stabley DL, Demmer LA, Agbulos A, Lin AE, Smoot L, et al. 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; http://dx.doi.org/10.1002/ajmg.a.32639; PMID: 19206176
  • Williams VC, Lucas J, Babcock MA, Gutmann DH, Korf B, Maria BL. Neurofibromatosis type 1 revisited. Pediatrics 2009; 123:124 - 33; http://dx.doi.org/10.1542/peds.2007-3204; PMID: 19117870
  • Wiest V, Eisenbarth I, Schmegner C, Krone W, Assum G. Somatic NF1 mutation spectra in a family with neurofibromatosis type 1: toward a theory of genetic modifiers. Hum Mutat 2003; 22:423 - 7; http://dx.doi.org/10.1002/humu.10272; PMID: 14635100
  • Serra E, Ars E, Ravella A, Sánchez A, Puig S, Rosenbaum T, et al. Somatic NF1 mutational spectrum in benign neurofibromas: mRNA splice defects are common among point mutations. Hum Genet 2001; 108:416 - 29; http://dx.doi.org/10.1007/s004390100514; PMID: 11409870
  • Serra E, Rosenbaum T, Winner U, Aledo R, Ars E, Estivill X, et al. Schwann cells harbor the somatic NF1 mutation in neurofibromas: evidence of two different Schwann cell subpopulations. Hum Mol Genet 2000; 9:3055 - 64; http://dx.doi.org/10.1093/hmg/9.20.3055; PMID: 11115850
  • Colman SD, Rasmussen SA, Ho VT, Abernathy CR, Wallace MR. Somatic mosaicism in a patient with neurofibromatosis type 1. Am J Hum Genet 1996; 58:484 - 90; PMID: 8644707
  • Vandenbroucke I, van Doorn R, Callens T, Cobben JM, Starink TM, Messiaen L. Genetic and clinical mosaicism in a patient with neurofibromatosis type 1. Hum Genet 2004; 114:284 - 90; http://dx.doi.org/10.1007/s00439-003-1047-9; PMID: 14605872
  • Redlick FP, Shaw JC. Segmental neurofibromatosis follows blaschko’s lines or dermatomes depending on the cell line affected: case report and literature review. J Cutan Med Surg 2004; 8:353 - 6; http://dx.doi.org/10.1007/s10227-005-0029-z; PMID: 15868313
  • Wolkenstein P, Mahmoudi A, Zeller J, Revuz J. More on the frequency of segmental neurofibromatosis. Arch Dermatol 1995; 131:1465; http://dx.doi.org/10.1001/archderm.1995.01690240131030; PMID: 7492147
  • Tinschert S, Naumann I, Stegmann E, Buske A, Kaufmann D, Thiel G, et al. Segmental neurofibromatosis is caused by somatic mutation of the neurofibromatosis type 1 (NF1) gene. Eur J Hum Genet 2000; 8:455 - 9; http://dx.doi.org/10.1038/sj.ejhg.5200493; PMID: 10878667
  • Writzl K, Hoovers J, Sistermans EA, Hennekam RC. LEOPARD syndrome with partly normal skin and sex chromosome mosaicism. Am J Med Genet A 2007; 143A:2612 - 5; http://dx.doi.org/10.1002/ajmg.a.31991; PMID: 17935252
  • Bernard-Pierrot I, Brams A, Dunois-Lardé C, Caillault A, Diez de Medina SG, Cappellen D, et al. Oncogenic properties of the mutated forms of fibroblast growth factor receptor 3b. Carcinogenesis 2006; 27:740 - 7; http://dx.doi.org/10.1093/carcin/bgi290; PMID: 16338952
  • Hernández S, Toll A, Baselga E, Ribé A, Azua-Romeo J, Pujol RM, et al. Fibroblast growth factor receptor 3 mutations in epidermal nevi and associated low grade bladder tumors. J Invest Dermatol 2007; 127:1664 - 6; PMID: 17255960
  • Hafner C, Vogt T, Hartmann A. FGFR3 mutations in benign skin tumors. Cell Cycle 2006; 5:2723 - 8; http://dx.doi.org/10.4161/cc.5.23.3509; PMID: 17172848
  • Hafner C, Hartmann A, Real FX, Hofstaedter F, Landthaler M, Vogt T. Spectrum of FGFR3 mutations in multiple intraindividual seborrheic keratoses. J Invest Dermatol 2007; 127:1883 - 5; http://dx.doi.org/10.1038/sj.jid.5700804; PMID: 17392824
  • Hafner C, Toll A, Fernández-Casado A, Earl J, Marqués M, Acquadro F, et al. Multiple oncogenic mutations and clonal relationship in spatially distinct benign human epidermal tumors. Proc Natl Acad Sci USA 2010; 107:20780 - 5; http://dx.doi.org/10.1073/pnas.1008365107; PMID: 21078999
  • Hafner C, van Oers JM, Hartmann A, Landthaler M, Stoehr R, Blaszyk H, et al. High frequency of FGFR3 mutations in adenoid seborrheic keratoses. J Invest Dermatol 2006; 126:2404 - 7; http://dx.doi.org/10.1038/sj.jid.5700422; PMID: 16778799
  • 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; http://dx.doi.org/10.1111/j.1365-2133.2011.10744.x; PMID: 22098123
  • Downward J. Signal transduction. Prelude to an anniversary for the RAS oncogene. Science 2006; 314:433 - 4; http://dx.doi.org/10.1126/science.1134727; PMID: 17053139
  • Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, et al. Mutations of the BRAF gene in human cancer. Nature 2002; 417:949 - 54; http://dx.doi.org/10.1038/nature00766; PMID: 12068308
  • Pollock PM, Harper UL, Hansen KS, Yudt LM, Stark M, Robbins CM, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003; 33:19 - 20; http://dx.doi.org/10.1038/ng1054; PMID: 12447372
  • 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; http://dx.doi.org/10.1002/ajmg.c.30300; PMID: 21500339
  • Side L, Taylor B, Cayouette M, Conner E, Thompson P, Luce M, et al. Homozygous inactivation of the NF1 gene in bone marrow cells from children with neurofibromatosis type 1 and malignant myeloid disorders. N Engl J Med 1997; 336:1713 - 20; http://dx.doi.org/10.1056/NEJM199706123362404; PMID: 9180088
  • Leroy K, Dumas V, Martin-Garcia N, Falzone MC, Voisin MC, Wechsler J, et al. Malignant peripheral nerve sheath tumors associated with neurofibromatosis type 1: a clinicopathologic and molecular study of 17 patients. Arch Dermatol 2001; 137:908 - 13; PMID: 11453810
  • Thiagalingam S, Flaherty M, Billson F, North K. Neurofibromatosis type 1 and optic pathway gliomas: follow-up of 54 patients. Ophthalmology 2004; 111:568 - 77; http://dx.doi.org/10.1016/j.ophtha.2003.06.008; PMID: 15019338
  • Bausch B, Borozdin W, Neumann HP, European-American Pheochromocytoma Study Group. Clinical and genetic characteristics of patients with neurofibromatosis type 1 and pheochromocytoma. N Engl J Med 2006; 354:2729 - 31; http://dx.doi.org/10.1056/NEJMc066006; PMID: 16790714
  • Martinelli S, McDowell HP, Vigne SD, Kokai G, Uccini S, Tartaglia M, et al. RAS signaling dysregulation in human embryonal Rhabdomyosarcoma. Genes Chromosomes Cancer 2009; 48:975 - 82; http://dx.doi.org/10.1002/gcc.20702; PMID: 19681119
  • Flosadóttir 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; http://dx.doi.org/10.2340/00015555-0365; PMID: 18311453
  • Vidaurri-de la Cruz H, Tamayo-Sánchez L, Durán-McKinster C, de la Luz Orozco-Covarrubias M, Ruiz-Maldonado R. Epidermal nevus syndromes: clinical findings in 35 patients. Pediatr Dermatol 2004; 21:432 - 9; http://dx.doi.org/10.1111/j.0736-8046.2004.21402.x; PMID: 15283784
  • García de Jalón A, Azúa-Romeo J, Trivez MA, Pascual D, Blas M, Rioja LA. Epidermal naevus syndrome (Solomon’s syndrome) associated with bladder cancer in a 20-year-old female. Scand J Urol Nephrol 2004; 38:85 - 7; http://dx.doi.org/10.1080/00365590310017316; PMID: 15204433
  • Rongioletti F, Rebora A. Epidermal nevus with transitional cell carcinomas of the urinary tract. J Am Acad Dermatol 1991; 25:856 - 8; http://dx.doi.org/10.1016/S0190-9622(08)80987-5; PMID: 1802914
  • Rosenthal D, Fretzin DF. Epidermal nevus syndrome: report of association with transitional cell carcinoma of the bladder. Pediatr Dermatol 1986; 3:455 - 8; http://dx.doi.org/10.1111/j.1525-1470.1986.tb00650.x; PMID: 3562359
  • Ball EA, Hussain M, Moss AL. Squamous cell carcinoma and basal cell carcinoma arising in a naevus sebaceous of Jadassohn: case report and literature review. Clin Exp Dermatol 2005; 30:259 - 60; http://dx.doi.org/10.1111/j.1365-2230.2005.01744.x; PMID: 15807685
  • Chou CY, Chen WY, Wang KH, Chen TJ. Carcinosarcoma derived from nevus sebaceus. J Clin Oncol 2011; 29:e719 - 21; http://dx.doi.org/10.1200/JCO.2011.35.8093; PMID: 21788565
  • Izumi M, Tang X, Chiu CS, Nagai T, Matsubayashi J, Iwaya K, et al. Ten cases of sebaceous carcinoma arising in nevus sebaceus. J Dermatol 2008; 35:704 - 11; http://dx.doi.org/10.1111/j.1346-8138.2008.00550.x; PMID: 19120764
  • Mauerer A, Herschberger E, Dietmaier W, Landthaler M, Hafner C. Low incidence of EGFR and HRAS mutations in cutaneous squamous cell carcinomas of a German cohort. Exp Dermatol 2011; 20:848 - 50; http://dx.doi.org/10.1111/j.1600-0625.2011.01334.x; PMID: 21771097
  • Oberholzer PA, Kee D, Dziunycz P, Sucker A, Kamsukom N, Jones R, et al. RAS mutations are associated with the development of cutaneous squamous cell tumors in patients treated with RAF inhibitors. J Clin Oncol 2012; 30:316 - 21; http://dx.doi.org/10.1200/JCO.2011.36.7680; PMID: 22067401
  • Su F, Viros A, Milagre C, Trunzer K, Bollag G, Spleiss O, et al. RAS mutations in cutaneous squamous-cell carcinomas in patients treated with BRAF inhibitors. N Engl J Med 2012; 366:207 - 15; http://dx.doi.org/10.1056/NEJMoa1105358; PMID: 22256804
  • Hafner C, Klein A, Landthaler M, Vogt T. Clonality of basal cell carcinoma arising in an epidermal nevus. New insights provided by molecular analysis. Dermatology 2009; 218:278 - 81; http://dx.doi.org/10.1159/000189209; PMID: 19122450
  • Tavormina PL, Shiang R, Thompson LM, Zhu YZ, Wilkin DJ, Lachman RS, et al. Thanatophoric dysplasia (types I and II) caused by distinct mutations in fibroblast growth factor receptor 3. Nat Genet 1995; 9:321 - 8; http://dx.doi.org/10.1038/ng0395-321; PMID: 7773297

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