ArticleThe Journal of investigative dermatology2013
Multiple congenital melanocytic nevi and neurocutaneous melanosis are caused by postzygotic mutations in codon 61 of NRAS.
Article in The Journal of investigative dermatology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 110 papers.
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Who cites it
110 citing papers in PubMed, 343 citations in OpenAlex.
- Tunlametinib Suppresses Melanogenesis Induces Cell Cycle Arrest and Apoptosis in Giant Congenital Melanocytic Nevus Cells.Cancers · 2026Article
- Congenital Melanocytic Nevus Mimicking a Coccygeal Pad in the Sacrococcygeal Region.Plastic and reconstructive surgery. Global open · 2026Article
- Enhancement of the leptomeninges in a young man.Brain pathology (Zurich, Switzerland) · 2026Article
- Parents' experiences of diagnosis and specialist care of children's rare birthmarks.British journal of health psychology · 2026Article
- Precision Medicine in Dermatology: MEK Inhibition and MAPK Pathway Modulation for Congenital Melanocytic Nevi.Biomedicines · 2026Review
- Unveiling the Prevalence and Surgical Burden of Neurocristopathies: A Scoping Review and Statistical Analysis.Research square · 2026Article
- Efficacy of azacitidine and trametinib against leptomeningeal melanosis associated with congenital melanocytic nevus syndrome.Molecular and cellular pediatrics · 2026Review
- Prenatal Fetal Neurocutaneous Melanosis: A Case Report and Literature Review.Molecular genetics & genomic medicine · 2026Review
- Epigenomic characterization and therapeutic challenges of melanoma arising in giant nevi in pediatric patients.Discover oncology · 2025Article
- Segmental corymbiform congenital melanocytic naevi: Implications for melanocytic embryology.Journal of the European Academy of Dermatology and Venereology : JEADV · 2025Article
- A Case Report of Giant Congenital Melanocytic Nevus Complicated by Minimal Change Disease, With Genetic Analysis.Clinical case reports · 2025Article
- The Somatic Mosaicism across Human Tissues Network.Nature · 2025Review
- Pigmented skin lesions with atypical histopathology indicating a diagnosis of multiple metastases of melanoma: A case report.Oncology letters · 2025Article
- Pigmented Peril: A fatal case of Primary intracranial melanoma in a paediatric patient.Radiology case reports · 2025Article
- A diagnostic approach to neurocutaneous syndromes.Arquivos de neuro-psiquiatria · 2025Review
- [WHO classification of melanocytic tumours].Dermatologie (Heidelberg, Germany) · 2025Review
- Re-envisioning genetic predisposition to childhood and adolescent cancers.Nature reviews. Cancer · 2025Review
- Neurocutaneous Melanocytosis-Associated Hydrocephalus: The Memorial Sloan Kettering Experience from 2001 to 2022.Pediatric blood & cancer · 2025Article
- Congenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.Virchows Archiv : an international journal of pathology · 2025Review
- Long-term follow-up of congenital melanocytic nevi in a pediatric population: a retrospective study.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2025Article
50 more citing papers are in PubMed but not listed here.
Corrections and comments
- Commented on by
- Erratum issuedErratum.2016
Authors and funding
17 authors at 4 institutions in 1 country.
Funding
Abstract
Congenital melanocytic nevi (CMN) can be associated with neurological abnormalities and an increased risk of melanoma. Mutations in NRAS, BRAF, and Tp53 have been described in individual CMN samples; however, their role in the pathogenesis of multiple CMN within the same subject and development of associated features has not been clear. We hypothesized that a single postzygotic mutation in NRAS could be responsible for multiple CMN in the same individual, as well as for melanocytic and nonmelanocytic central nervous system (CNS) lesions. From 15 patients, 55 samples with multiple CMN were sequenced after site-directed mutagenesis and enzymatic digestion of the wild-type allele. Oncogenic missense mutations in codon 61 of NRAS were found in affected neurological and cutaneous tissues of 12 out of 15 patients, but were absent from unaffected tissues and blood, consistent with NRAS mutation mosaicism. In 10 patients, the mutation was consistently c.181C>A, p.Q61K, and in 2 patients c.182A>G, p.Q61R. All 11 non-melanocytic and melanocytic CNS samples from 5 patients were mutation positive, despite NRAS rarely being reported as mutated in CNS tumors. Loss of heterozygosity was associated with the onset of melanoma in two cases, implying a multistep progression to malignancy. These results suggest that single postzygotic NRAS mutations are responsible for multiple CMN and associated neurological lesions in the majority of cases.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.