AI Article Synopsis
- - Melanoma is influenced by both environmental factors and specific genetic predispositions, particularly involving CDKN2A mutations and MC1R variants.
- - A study compared 107 familial melanoma patients and 1,390 sporadic cases, revealing familial patients were younger, had more atypical naevi, and a higher incidence of squamous cell carcinoma (SCC).
- - The presence of CDKN2A mutations was linked to more severe symptoms, while MC1R variants were associated with earlier diagnosis and more SCC cases, suggesting targeted prevention strategies for familial melanoma in the Mediterranean region.
Article Abstract
Melanoma results from a complex interplay between environmental factors and individual genetic susceptibility. Familial melanoma is attributable to predisposition genes with variable penetrance. The aim of this study was to identify differences between familial melanoma and sporadic cases in our population, based on the presence of CDKN2A mutations and MC1R variants. Comparing 107 patients with familial melanoma from 87 families (17% CDKN2A mutated) with 1,390 cases of sporadic melanomas, the former were younger and exhibited an increased prevalence of atypical naevi and squamous cell carcinoma (SCC). CDKN2A mutation carriers presented more atypical naevi, multiple melanomas, and basal cell carcinoma, while non-carriers were more likely to have light-coloured hair, atypical naevi, and SCC. MC1R variants decreased the age at diagnosis in all groups and were associated with an increased prevalence of SCC, especially in patients with familial melanoma without CDKN2A mutations. These characteristics may help to establish prevention measures targeting patients with familial melanoma in the Mediterranean area.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.2340/00015555-2898 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Azathioprine and risk of non-melanoma skin cancers in organ transplant recipients: a systematic review and update meta-analysis.
Clin Transl Oncol
January 2025
Anhembi University Morumbi, São José dos Campos, São Paulo, 12235-181, Brazil.
Background: Immunosuppression might increase the risk of skin cancer in organ transplant recipients (OTRs), with azathioprine (AZA), exerting a fundamental role in the carcinogenesis of those tumors. This systematic review and meta-analysis aims to address the risk of developing malignant skin neoplasms in OTRs undergoing immunosuppression with AZA.
Methods: PubMed, Cochrane and Embase were searched for studies with OTRs who have a treatment regimen involving Azathioprine therapy after transplantation and that analyzed the emergence of skin neoplasia.
The tumor immune microenvironment in primary cutaneous melanoma.
Arch Dermatol Res
January 2025
Department of Dermatology, The University of Sydney at Royal Prince Alfred Hospital, Missenden Rd, NSW , Camperdown, 2050, Australia.
Melanoma is an immunogenic tumor. The melanoma tumor immune microenvironment (TIME) is made up of a heterogenous mix of both immune and non-immune cells as well as a multitude of signaling molecules. The interactions between tumor cells, immune cells and signaling molecules affect tumor progression and therapeutic responses.
View Article and Find Full Text PDFSmall intestinal metastasis of cutaneous melanoma in an elderly woman: Survival benefits of surgery and novel targeted therapies - A case report.
Int J Surg Case Rep
January 2025
Visceral Surgery Department II, Mohammed V Military Hospital, Ibn Sina University Hospital, Rabat, Morocco.
Introduction And Importance: Cutaneous malignant melanoma, originating from melanocytes, is a highly metastatic cancer with an incidence rate of 0.9 per 100,000. The gastrointestinal tract is a common site of metastasis, with the small intestine being particularly affected.
View Article and Find Full Text PDFActionable Gene Alterations Identified in Patients With Malignant Melanoma by Targeted Sequencing in Japan.
JCO Precis Oncol
January 2025
Department of Medical Oncology, Hokkaido University Hospital, Sapporo, Hokkaido, Japan.
Purpose: Precision medicine plays an important role in the treatment of patients with advanced melanoma. Despite its high incidence in White patients, advanced melanoma is rare in Asian countries, hampering prospective clinical trials targeting the Asian population. This retrospective study aimed to elucidate the real-world molecular diagnoses and outcomes of Japanese patients with melanoma using comprehensive genome profiling (CGP).
View Article and Find Full Text PDFPathological Spectrum of Melanoma: A Nine-Year Retrospective Analysis of Tumor Characteristics Across Diverse Anatomic Sites.
Cureus
December 2024
Ophthalmology, All India Institute of Medical Sciences, Madurai, Madurai, IND.
Melanoma is a highly aggressive malignancy originating from melanocytes, characterized by its potential to arise in various anatomic locations, both common and rare. The incidence of melanoma has been steadily increasing globally, with variations in clinical presentation, tumor behavior, and prognosis depending on the anatomical site involved. Understanding the diverse pathological spectrum of melanoma is critical for optimizing diagnostic and therapeutic strategies.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!