ArticlePigment cell & melanoma research2022
Landscape of mutations in early stage primary cutaneous melanoma: An InterMEL study.
Article in Pigment cell & melanoma research, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 21 citations in OpenAlex.
- Functional characterization of the 9q34.13 locus identifies RAPGEF1 as a candidate gene modulating risk for melanoma and nevi via RAS activation.American journal of human genetics · 2026Article
- A bibliometric study of the top 100 most-cited articles on melanoma: insights into research trends and characteristics.Dermatology reports · 2026Article
- PROTAC-based protein degradation: a window of opportunity for melanoma therapy.Journal of biomedical science · 2026Review
- Functional characterization of the 9q34.13 locus identifiesbioRxiv : the preprint server for biology · 2026Article
- Lessons from neoadjuvant immunotherapy in melanoma: understanding antitumour immunity and tumour escape.Nature reviews. Immunology · 2026Review
- Tumor miRNA Signatures Associate with Outcomes of Patients with Stage II/III Melanoma.Clinical cancer research : an official journal of the American Association for Cancer Research · 2025Article
- The Dutch Early-Stage Melanoma (D-ESMEL) study: a discovery set and validation cohort to predict the absolute risk of distant metastases in stage I/II cutaneous melanoma.European journal of epidemiology · 2025Article
- Patterns in progression from early-stage melanoma to late-stage melanoma: implications for survivorship follow-up.Melanoma management · 2024Article
- Solar elastosis correlates with high tumor mutation burden and better 5-year disease-specific survival in patients with stage II/III melanoma.EJC skin cancer · 2024Article
- DNA Methylation Classes of Stage II and III Primary Melanomas and Their Clinical and Prognostic Significance.JCO precision oncology · 2024Article
- Innate Immune Cells in Melanoma: Implications for Immunotherapy.International journal of molecular sciences · 2024Review
- Adaptation of a mutual exclusivity framework to identify driver mutations within oncogenic pathways.American journal of human genetics · 2024Article
- RAS Signaling Gone Awry in the Skin: The Complex Role of RAS in Cutaneous Neurofibroma Pathogenesis, Emerging Biological Insights.The Journal of investigative dermatology · 2023Review
- The Driverless Triple-Wild-Type (BRAF, RAS, KIT) Cutaneous Melanoma: Whole Genome Sequencing Discoveries.Cancers · 2023Article
- Pathway Alterations in Stage II/III Primary Melanoma.JCO precision oncology · 2023Article
- InterMEL: An international biorepository and clinical database to uncover predictors of survival in early-stage melanoma.PloS one · 2023Article
- p53 Family in Resistance to Targeted Therapy of Melanoma.International journal of molecular sciences · 2022Review
- Landscape of mutations in early stage primary cutaneous melanoma: An InterMEL study.Pigment cell & melanoma research · 2022Article
Corrections and comments
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Authors and funding
45 authors at 19 institutions in 4 countries.
Funding
Abstract
It is unclear why some melanomas aggressively metastasize while others remain indolent. Available studies employing multi-omic profiling of melanomas are based on large primary or metastatic tumors. We examine the genomic landscape of early-stage melanomas diagnosed prior to the modern era of immunological treatments. Untreated cases with Stage II/III cutaneous melanoma were identified from institutions throughout the United States, Australia and Spain. FFPE tumor sections were profiled for mutation, methylation and microRNAs. Preliminary results from mutation profiling and clinical pathologic correlates show the distribution of four driver mutation sub-types: 31% BRAF; 18% NRAS; 21% NF1; 26% Triple Wild Type. BRAF mutant tumors had younger age at diagnosis, more associated nevi, more tumor infiltrating lymphocytes, and fewer thick tumors although at generally more advanced stage. NF1 mutant tumors were frequent on the head/neck in older patients with severe solar elastosis, thicker tumors but in earlier stages. Triple Wild Type tumors were predominantly male, frequently on the leg, with more perineural invasion. Mutations in TERT, TP53, CDKN2A and ARID2 were observed often, with TP53 mutations occurring particularly frequently in the NF1 sub-type. The InterMEL study will provide the most extensive multi-omic profiling of early-stage melanoma to date. Initial results demonstrate a nuanced understanding of the mutational and clinicopathological landscape of these early-stage tumors.
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Registered trials
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.