ArticleThe Journal of investigative dermatology2014
NRAS mutation is the sole recurrent somatic mutation in large congenital melanocytic nevi.
Article in The Journal of investigative dermatology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed.
- Precision Medicine in Dermatology: MEK Inhibition and MAPK Pathway Modulation for Congenital Melanocytic Nevi.Biomedicines · 2026Review
- Surgical Management of a Large Congenital Melanocytic Nevus of the Face-A Technical Case Report and Comparison with Classic and Novel Approaches.Pediatric reports · 2026Article
- Mitotic Proliferative Nodule Within a Giant Congenital Nevus: One Case Report and Updated Review.Dermatopathology (Basel, Switzerland) · 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
- Serial Skin Grafing Technique for Management of a Facial Giant Congenital Melanocytic Nevus: Case Report with a Literature Review.Indian journal of plastic surgery : official publication of the Association of Plastic Surgeons of India · 2025Article
- Clinical and histopathological characteristics of melanomas in Asians under age 40.Scientific reports · 2025Article
- [WHO classification of melanocytic tumours].Dermatologie (Heidelberg, Germany) · 2025Review
- Congenital melanocytic neoplasms: clinical, histopathological and recent molecular developments.Virchows Archiv : an international journal of pathology · 2025Review
- Nevi and Melanoma.Hematology/oncology clinics of North America · 2024Review
- Melanoma biology and treatment: a review of novel regulated cell death-based approaches.Cancer cell international · 2024Review
- Article
- Murine models of HRAS-mediated cutaneous skeletal hypophosphatemia syndrome suggest bone as the FGF23 excess source.The Journal of clinical investigation · 2023Article
- The Complex Interplay between Nevi and Melanoma: Risk Factors and Precursors.International journal of molecular sciences · 2023Review
- Article
- High-Plex Spatial RNA Profiling Reveals Cell Type‒Specific Biomarker Expression during Melanoma Development.The Journal of investigative dermatology · 2022Article
- Resistance Mechanisms in Pediatric B-Cell Acute Lymphoblastic Leukemia.International journal of molecular sciences · 2022Review
- Case report: Later onset of NRAS-mutant metastatic melanoma in a patient with a partially-excised giant congenital melanocytic nevus.Frontiers in medicine · 2022Article
- The retrospective molecular analysis of large or giant congenital melanocytic nevi in a group of Polish children.Journal of mother and child · 2021Article
- Unraveling the Wide Spectrum of Melanoma Biomarkers.Diagnostics (Basel, Switzerland) · 2021Review
6 more citing papers are in PubMed but not listed here.
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13 authors.
Funding
Abstract
Congenital melanocytic nevus (CMN) is a particular melanocytic in utero proliferation characterized by an increased risk of melanoma transformation during infancy or adulthood. NRAS and BRAF mutations have consistently been reported in CMN samples, but until recently results have been contradictory. We therefore studied a series of large and giant CMNs and compared them with small and medium CMNs using Sanger sequencing, pyrosequencing, high-resolution melting analysis, and mutation enrichment by an enhanced version of ice-COLD-PCR. Large-giant CMNs displayed NRAS mutations in 94.7% of cases (18/19). At that point, the role of additional mutations in CMN pathogenesis had to be investigated. We therefore performed exome sequencing on five specimens of large-giant nevi. The results showed that NRAS mutation was the sole recurrent somatic event found in such melanocytic proliferations. The genetic profile of small-medium CMNs was significantly different, with 70% of cases bearing NRAS mutations and 30% showing BRAF mutations. These findings strongly suggest that NRAS mutations are sufficient to drive melanocytic benign proliferations in utero.
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