ArticleJournal of translational medicine2020
Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients.
Article in Journal of translational medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
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Who cites it
20 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of cancer risks associated with MITF variants.Familial cancer · 2026Pooled it
- Familial melanoma: genetic, clinical, and dermoscopic insights and follow-up.Frontiers in medicine · 2026Review
- Genetic Landscape of Familial Melanoma.Genes · 2025Review
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Germline variants in CDKN2A wild-type melanoma prone families.Molecular oncology · 2025Article
- Characteristics of patients with melanoma with non‑melanoma skin cancer comorbidity: Practical implications based on a retrospective study.Oncology letters · 2025Article
- How to Effectively Communicate Dismal Diagnoses in Dermatology and Venereology: From Skin Cancers to Sexually Transmitted Infections.Diagnostics (Basel, Switzerland) · 2025Review
- Exploring the Common Mutational Landscape in Cutaneous Melanoma and Pancreatic Cancer.Pigment cell & melanoma research · 2025Review
- Prevalence of CDKN2A, CDK4, POT1, BAP1, MITF, ATM, and TERT Pathogenic Variants in a Single-Center Retrospective Series of Patients With Melanoma and Personal or Family History Suggestive of Genetic Predisposition.Dermatology practical & conceptual · 2024Article
- Article
- Phenotypic and Dermoscopic Patterns of Familial Melanocytic Lesions: A Pilot Study in a Third-Level Center.Cancers · 2023Article
- The MC1R r allele does not increase melanoma risk in MITF E318K carriers.The British journal of dermatology · 2023Article
- New Insights into Melanoma Tumor Syndromes.JID innovations : skin science from molecules to population health · 2022Review
- Predictors of germline status for hereditary melanoma: 5 years of multi-gene panel testing within the Italian Melanoma Intergroup.ESMO open · 2022Article
- Genetic Variants and Somatic Alterations Associated with MITF-E318K Germline Mutation in Melanoma Patients.Genes · 2021Article
- Familial Melanoma and Susceptibility Genes: A Review of the Most Common Clinical and Dermoscopic Phenotypic Aspect, Associated Malignancies and Practical Tips for Management.Journal of clinical medicine · 2021Review
- Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin.Genes · 2021Review
- A Single Center Retrospective Review of Patients from Central Italy Tested for Melanoma Predisposition Genes.International journal of molecular sciences · 2020Article
- Current Molecular Markers of Melanoma and Treatment Targets.International journal of molecular sciences · 2020Review
- Insights into Genetic Susceptibility to Melanoma by Gene Panel Testing: Potential Pathogenic Variants in ACD,Cancers · 2020Article
Corrections and comments
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Authors and funding
16 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundThe p.E318K variant of the Melanocyte Inducing Transcription Factor (MITF) has been implicated in genetic predisposition to melanoma as an intermediate penetrance allele. However, the impact of this variant on clinico-phenotypic, as well as on dermoscopic patterns features of affected patients is not entirely defined. The purpose of our study was to assess the association between the p.E318K germline variant and clinic-phenotypical features of MITF+ compared to non-carriers (MITF-), including dermoscopic findings of melanomas and dysplastic nevi.
methodswe retrospectively analyzed a consecutive series of 1386 patients recruited between 2000 and 2017 who underwent genetic testing for CDKN2A, CDK4, MC1R and MITF germline variants in our laboratory for diagnostic/research purposes. The patients were probands of melanoma-prone families and apparently sporadic single or multiple primary melanoma patients. For all, we collected clinical, pathological information and dermoscopic images of the histopathologically diagnosed melanomas and dysplastic nevi, when available.
resultsAfter excluding patients positive for CDKN2A/CDK4 pathogenic variants and those affected by non-cutaneous melanomas, our study cohort comprised 984 cutaneous melanoma patients, 22 MITF+ and 962 MITF-. MITF+ were more likely to develop dysplastic nevi and multiple primary melanomas. Nodular melanoma was more common in MITF+ patients (32% compared to 19% in MITF-). MITF+ patients showed more frequently dysplastic nevi and melanomas with uncommon dermoscopic patterns (unspecific), as opposed to MITF- patients, whose most prevalent pattern was the multicomponent.
conclusionsMITF+ patients tend to develop melanomas and dysplastic nevi with histopathological features, frequency and dermoscopic patterns often different from those prevalent in MITF- patients. Our results emphasize the importance of melanoma prevention programs for MITF+ patients, including dermatologic surveillance with digital follow-up.
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