Hiding in plain sight: Molecular genetics applied to giant congenital melanocytic nevi

Journal of Investigative Dermatology

Volumn 134, Issue 4, 2014, Pages 879-882

  Etchevers, Heather C ^a  

^a AIX MARSEILLE UNIVERSITY   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; GUANINE NUCLEOTIDE BINDING PROTEIN; MITOGEN ACTIVATED PROTEIN KINASE 1;

AMINO ACID SUBSTITUTION; ARACHNOID CYST; AUTOSOMAL DOMINANT INHERITANCE; BECKER NEVUS; BRAF GENE; CAFE AU LAIT SPOT; CELL INFILTRATION; CEREBELLUM HYPOPLASIA; CODON; CORRELATION ANALYSIS; DANDY WALKER SYNDROME; DERMAL MELANOCYTOSIS; DIFFERENTIAL DIAGNOSIS; DISEASE CLASSIFICATION; DISEASE PREDISPOSITION; EPILEPSY; GENE; GENE MUTATION; HAMARTOMA; HETEROZYGOSITY LOSS; HIGH RESOLUTION MELTING ANALYSIS; HUMAN; HYDROCEPHALUS; MASTOCYTOMA; MELANOCYTIC NEVUS; MELANOCYTOSIS; MELANOSIS; MOLECULAR GENETICS; NEUROCUTANEOUS MELANOBLASTOSIS; NEUROFIBROMA; NONHUMAN; NRAS GENE; PRIORITY JOURNAL; PYROSEQUENCING; REVIEW; SIGNAL TRANSDUCTION; SMOOTH MUSCLE HAMARTOMA; SOMATIC MUTATION; SUBCUTANEOUS TISSUE; TETHERED CORD SYNDROME;

FEMALE; GENES, RAS; GTP PHOSPHOHYDROLASES; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; NEVUS, PIGMENTED;

EID: 84897884107     PISSN: 0022202X     EISSN: 15231747     Source Type: Journal    
DOI: 10.1038/jid.2013.531     Document Type: Note

References (10)

1. Charbel C, Fontaine RH, Malouf GG et al. (2014) NRAS mutation is the sole recurrent somatic mutation in large congenital mela-nocytic nevi. J Invest Dermatol 134: 1067-74
2. 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
3. Dhomen N, Da Rocha Dias S, Hayward R et al. (2009) Inducible expression of (V600E) Braf using tyrosinase-driven Cre recombinase results in embryonic lethality. Pigment Cell Melanoma Res 23:112-20
4. Kinsler VA, Thomas AC, Ishida M et al. (2013) Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS. J Invest Dermatol 133:2229-36
5. Krengel S, Scope A, Dusza SW et al. (2013) New recommendations for the categorization of cutaneous features of congenital melanocytic nevi. J Am Acad Dermatol 68:441-51
6. Pedersen M, Küsters-Vandevelde HVN, Viros A et al. (2013) Primary melanoma of the CNS in children is driven by congenital expression of oncogenic NRAS in melanocytes. Cancer Discov 3:458-69
7. Phadke PA, Rakheja D, Le LP et al. (2011) Proliferative nodules arising within congenital melanocytic nevi: a histologic, immunohisto-chemical, and molecular analyses of 43 cases. Am J Surg Pathol 35:656-69
8. Shah KN (2010) The risk of melanoma and neuro-cutaneous melanosis associated with congenital melanocytic nevi. Semin Cutan Med Surg 29:159-64
9. 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
10. Zhao Z, Huo F, Jeffry J et al. (2013) Chronic itch development in sensory neurons requires BRAF signaling pathways. J Clin Invest 123:4769-80