ArticleThe Journal of investigative dermatology2014
Phenotypic characterization of nevus and tumor patterns in MITF E318K mutation carrier melanoma patients.
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 33 papers, 1 of them a synthesis that pooled it.
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Who cites it
33 citing papers in PubMed, 1 synthesis or guideline pooled it.
- A systematic review of cancer risks associated with MITF variants.Familial cancer · 2026Pooled it
- Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes.Diseases (Basel, Switzerland) · 2025Review
- Characteristics of patients with melanoma with non‑melanoma skin cancer comorbidity: Practical implications based on a retrospective study.Oncology letters · 2025Article
- Amelanotic Melanoma-Biochemical and Molecular Induction Pathways.International journal of molecular sciences · 2024Review
- MITF regulates IDH1, NNT, and a transcriptional program protecting melanoma from reactive oxygen species.Scientific reports · 2024Article
- 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
- 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
- The Complex Interplay between Nevi and Melanoma: Risk Factors and Precursors.International journal of molecular sciences · 2023Review
- 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
- Review
- Uncommon Subtypes of Malignant Melanomas: A Review Based on Clinical and Molecular Perspectives.Cancers · 2020Review
- Germline mutations predisposing to melanoma.Journal of cutaneous pathology · 2020Review
- Clinical, pathological and dermoscopic phenotype of MITF p.E318K carrier cutaneous melanoma patients.Journal of translational medicine · 2020Article
- Identification of NovelFrontiers in genetics · 2020Article
- Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.PloS one · 2020Article
- Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.International journal of cancer · 2019Article
- Review
- Association of Incident Amelanotic Melanoma With Phenotypic Characteristics, MC1R Status, and Prior Amelanotic Melanoma.JAMA dermatology · 2017Article
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
A germline polymorphism of the microphthalmia transcription factor (MITF) gene encoding a SUMOylation-deficient E318K-mutated protein has recently been described as a medium-penetrance melanoma gene. In a clinical assessment of nevi from 301 volunteers taken from Queensland, we identified six individuals as MITF E318K mutation carriers. The phenotype for 5 of these individuals showed a commonality of fair skin, body freckling that varied over a wide range, and total nevus count between 46 and 430; in addition, all were multiple primary melanoma patients. The predominant dermoscopic signature pattern of nevi was reticular, and the frequency of globular nevi in carriers varied, which does not suggest that the MITF E318K mutation acts to force the continuous growth of nevi. Excised melanocytic lesions were available for four MITF E318K carrier patients and were compared with a matched range of wild-type (WT) melanocytic lesions. The MITF staining pattern showed a predominant nuclear signal in all sections, with no significant difference in the nuclear/cytoplasmic ratio between mutation-positive or -negative samples. A high incidence of amelanotic melanomas was found within the group, with three of the five melanomas from one patient suggesting a genetic interaction between the MITF E318K allele and an MC1R homozygous red hair color (RHC) variant genotype.
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