Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS

Journal of Investigative Dermatology

Volumn 133, Issue 9, 2013, Pages 2229-2236

  Kinsler, Veronica A ^a,b   Thomas, Anna C ^b   Ishida, Miho ^b   Bulstrode, Neil W ^a   Loughlin, Sam ^a   Hing, Sandra ^a   Chalker, Jane ^a   Mckenzie, Kathryn ^c   Abu Amero, Sayeda ^b   Slater, Olga ^a   Chanudet, Estelle ^b   Palmer, Rodger ^a   Morrogh, Deborah ^a   Stanier, Philip ^b   Healy, Eugene ^d   Sebire, Neil J ^a,b   Moore, Gudrun E ^b  

^a GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^d UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ARTICLE; CANCER GROWTH; CENTRAL NERVOUS SYSTEM TUMOR; CLINICAL ARTICLE; CODON; CONGENITAL MELANOCYTIC NEVUS; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; MELANOCYTIC NEVUS; MELANOMA; MELANOSIS; MISSENSE MUTATION; MOSAICISM; MUTATION; PRIORITY JOURNAL; SITE DIRECTED MUTAGENESIS;

EID: 84884412000     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.70     Document Type: Article

References (50)

1. Adjei AA, Cohen RB, Franklin W et al. (2008) Phase I pharmacokinetic and pharmacodynamic study of the oral, small-molecule mitogen-Activated protein kinase kinase 1/2 inhibitor AZD6244 (ARRY-142886) in patients with advanced cancers. J Clin Oncol 26:2139-46
2. Agero AL, Benvenuto-Andrade C, Dusza SW et al. (2005) Asymptomatic neurocutaneous melanocytosis in patients with large congenital melanocytic nevi: A study of cases from an Internet-based registry. J Am Acad Dermatol 53:959-65
3. Amir J, Metzker A, Nitzan M (1982) Giant pigmented nevus occurring in one identical twin. Arch Dermatol 118:188-9
4. Bastian BC, Xiong J, Frieden IJ et al. (2002) Genetic changes in neoplasms arising in congenital melanocytic nevi: Differences between nodular proliferations and melanomas. Am J Pathol 161:1163-9
5. Bauer J, Curtin JA, Pinkel D et al. (2007) Congenital melanocytic nevi frequently harbor NRAS mutations but no BRAF mutations. J Invest Dermatol 127:179-82
6. Candeliere GA, Roughley PJ, Glorieux FH (1997) Polymerase chain reactionbased technique for the selective enrichment and analysis of mosaic arg201 mutations in G alpha s from patients with fibrous dysplasia of bone. Bone 21:201-6
7. Castellano E, Downward J (2011) RAS interaction with PI3K: More than just another effector pathway. Genes Cancer 2:261-74
8. Castilla EE, da Graca DM, Orioli-Parreiras IM (1981) Epidemiology of congenital pigmented naevi: I. Incidence rates and relative frequencies. Br J Dermatol 104:307-15
9. Cirstea IC, Kutsche K, Dvorsky R et al. (2010) A restricted spectrum of NRAS mutations causes Noonan syndrome. Nat Genet 42:27-9
10. COSMIC (2012) http://www.sanger.ac.uk/genetics/CGP/cosmic/
11. de Wijn RS, Zaal LH, Hennekam RC et al. (2010) Familial clustering of giant congenital melanocytic nevi. J Plast Reconstr Aesthet Surg 63: 906-13
12. Dessars B, De Raeve LE, El HH et al. (2007) Chromosomal translocations as a mechanism of BRAF activation in two cases of large congenital melanocytic nevi. J Invest Dermatol 127:1468-70
13. Dessars B, De Raeve LE, Morandini R et al. (2009) Genotypic and gene expression studies in congenital melanocytic nevi: Insight into initial steps of melanotumorigenesis. J Invest Dermatol 129:139-47
14. Doisaki S, Muramatsu H, Shimada A et al. (2012) Somatic mosaicism for oncogenic NRAS mutations in juvenile myelomonocytic leukemia. Blood 120:1485-8
15. Dovey M, White RM, Zon LI (2009) Oncogenic NRAS cooperates with p53 loss to generate melanoma in zebrafish. Zebrafish 6:397-404
16. Ferguson B, Konrad Muller H, Handoko HY et al. (2010) Differential roles of the pRb and Arf/p53 pathways in murine naevus and melanoma genesis. Pigment Cell Melanoma Res 23:771-80
17. Foster RD, Williams ML, Barkovich AJ et al. (2001) Giant congenital melanocytic nevi: The significance of neurocutaneous melanosis in neurologically asymptomatic children. Plast Reconstr Surg 107:933-41
18. Frieden IJ, Williams ML (1994) Familial site-specific congenital melanocytic nevus: Report of two families. Arch Dermatol 130:1075-6
19. Frieden IJ, Williams ML, Barkovich AJ (1994) Giant congenital melanocytic nevi: Brain magnetic resonance findings in neurologically asymptomatic children. J Am Acad Dermatol 31:423-9
20. Groesser L, Herschberger E, Ruetten A et al. (2012) Postzygotic HRAS and KRAS mutations cause nevus sebaceous and Schimmelpenning syndrome. Nat Genet 44:783-7
21. Hacker E, Hayward NK, Dumenil T et al. (2010) The association between MC1R genotype and BRAF mutation status in cutaneous melanoma: Findings from an Australian population. J Invest Dermatol 130:241-8
22. Hale EK, Stein J, Ben-Porat L et al. (2005) Association of melanoma and neurocutaneous melanocytosis with large congenital melanocytic naevi-results from the NYU-LCMN registry. Br J Dermatol 152:512-7
23. Happle R (1987) Lethal genes surviving by mosaicism: A possible explanation for sporadic birth defects involving the skin. J Am Acad Dermatol 16: 899-906
24. Ichii-Nakato N, Takata M, Takayanagi S et al. (2006) High frequency of BRAFV600E mutation in acquired nevi and small congenital nevi, but low frequency of mutation in medium-sized congenital nevi. J Invest Dermatol 126:2111-8
25. Kadonaga JN, Frieden IJ (1991) Neurocutaneous melanosis: Definition and review of the literature. J Am Acad Dermatol 24:747-55
26. Kinsler V, Shaw AC, Merks JH et al. (2012a) The face in congenital melanocytic nevus syndrome. Am J Med Genet A 158A:1014-9
27. Kinsler VA, Abu-Amero S, Budd P et al. (2012b) Germline melanocortin-1-receptor genotype is associated with severity of cutaneous phenotype in congenital melanocytic nevi: A role for MC1R in human fetal development. J Invest Dermatol 132:2026-32
28. Kinsler VA, Birley J, Atherton DJ (2009) Great Ormond Street Hospital for Children Registry for congenital melanocytic naevi: Prospective study 1988-2007. Part 1-epidemiology, phenotype and outcomes. Br J Dermatol 160:143-50
29. Kinsler VA, Chong WK, Aylett SE et al. (2008) Complications of congenital melanocytic naevi in children: Analysis of 16 years' experience and clinical practice. Br J Dermatol 159:907-14
30. Kinsler VA, Paine SM, Anderson GW et al. (2012c) Neuropathology of neurocutaneous melanosis: Histological foci of melanotic neurones and glia may be undetectable on MRI. Acta Neuropathol 123:453-6
31. Krengel S, Breuninger H, Beckwith M et al. (2011) Meeting report from the 2011 International Expert Meeting on Large Congenital Melanocytic Nevi and Neurocutaneous Melanocytosis, Tubingen. Pigment Cell Melanoma Res 24:E1-6
32. Krengel S, Hauschild A, Schafer T (2006) Melanoma risk in congenital melanocytic naevi: A systematic review. Br J Dermatol 155:1-8
33. Kumar R, Angelini S, Snellman E et al. (2004) BRAF mutations are common somatic events in melanocytic nevi. J Invest Dermatol 122:342-8
34. Kurek KC, Luks VL, Ayturk UM et al. (2012) Somatic mosaic activating mutations in PIK3CA cause CLOVES syndrome. Am J Hum Genet 90:1108-15
35. Landi MT, Bauer J, Pfeiffer RM et al. (2006) MC1R germline variants confer risk for BRAF-mutant melanoma. Science 313:521-2
36. Lindhurst MJ, Sapp JC, Teer JK et al. (2011) A mosaic activating mutation in AKT1 associated with the Proteus syndrome. N Engl J Med 365:611-9
37. Papp T, Pemsel H, Zimmermann R et al. (1999) Mutational analysis of the N-ras, p53, p16INK4a, CDK4, and MC1R genes in human congenital melanocytic naevi. J Med Genet 36:610-4
38. Papp T, Schipper H, Kumar K et al. (2005) Mutational analysis of the BRAF gene in human congenital and dysplastic melanocytic naevi. Melanoma Res 15:401-7
39. Phadke PA, Rakheja D, Le LP et al. (2011) Proliferative nodules arising within congenital melanocytic nevi: A histologic, immunohistochemical, and molecular analyses of 43 cases. Am J Surg Pathol 35:656-69
40. Pollock PM, Harper UL, Hansen KS et al. (2003) High frequency of BRAF mutations in nevi. Nat Genet 33:19-20
41. Pylayeva-Gupta Y, Grabocka E, Bar-Sagi D (2011) RAS oncogenes: Weaving a tumorigenic web. Nat Rev Cancer 11:761-74
42. Ramaswamy V, Delaney H, Haque S et al. (2012) Spectrum of central nervous system abnormalities in neurocutaneous melanocytosis. Dev Med Child Neurol 54:563-8
43. Robinson S, Dixon S, August S et al. (2010) Protection against UVR involves MC1R-mediated non-pigmentary and pigmentary mechanisms in vivo. J Invest Dermatol 130:1904-13
44. Ruiz-Maldonado R (2004) Measuring congenital melanocytic nevi. Pediatr Dermatol 21:178-9
45. Ruiz-Maldonado R, del Rosario Barona-Mazuera M, Hidalgo-Galvan LR et al. (1997) Giant congenital melanocytic nevi, neurocutaneous melanosis and neurological alterations. Dermatology 195:125-8
46. Runtuwene V, van Eekelen M, Overvoorde J et al. (2011) Noonan syndrome gain-of-function mutations in NRAS cause zebrafish gastrulation defects. Dis Model Mech 4:393-9
47. Scherer D, Rachakonda PS, Angelini S et al. (2010) Association between the germline MC1R variants and somatic BRAF/NRAS mutations in melanoma tumors. J Invest Dermatol 130:2844-8
48. Tidyman WE, Rauen KA (2009) The RASopathies: Developmental syndromes of Ras/MAPK pathway dysregulation. Curr Opin Genet Dev 19:230-6
49. Wu D, Wang M, Wang X et al. (2011) Lack of BRAF(V600E) mutations in giant congenital melanocytic nevi in a Chinese population. Am J Dermatopathol 33:341-4
50. Zenker M (2011) Clinical manifestations of mutations in RAS and related intracellular signal transduction factors. Curr Opin Pediatr 23:443-51