Summer N Meyer, Elanee Simmons, Amy C Studer, Katherine A Rauen, Maija Kiuru
{"title":"Melanocytic neoplasms in neurofibromatosis type 1: a systematic review.","authors":"Summer N Meyer, Elanee Simmons, Amy C Studer, Katherine A Rauen, Maija Kiuru","doi":"10.1097/CMR.0000000000000912","DOIUrl":null,"url":null,"abstract":"<p><p>Neurofibromatosis type 1 ( NF1 ) is commonly mutated in melanoma, yet the risk of melanoma in individuals with NF1 is incompletely understood. We performed a systematic review to investigate the risk and characteristics of melanoma and melanocytic nevi in NF1 individuals. PubMed was searched for articles describing NF1 individuals with melanoma, or melanocytic nevi. Those with cutaneous and ocular melanomas were compared to the general population using Surveillance, Epidemiology, and End Results data. Fifty-three articles describing 188 NF1 patients were included (melanoma n = 82, melanocytic nevi n = 93, melanocytic nevi, and melanoma n = 13). Compared to the general population, NF1 patients with cutaneous melanomas had earlier melanoma diagnoses (49.1 vs. 58.6 years, P = 0.012), thicker tumors (3.7 vs. 1.2 mm, P = 0.006), and more frequent disease-specific deaths (27.3% vs. 8.6%, P = 0.005) with shorter survival (12.9 vs. 34.2 months, P = 0.011). Ocular melanomas made up 15.0% of all melanomas in NF1 patients versus 1.5% in the general population ( P < 0.001). In pooling all population-based studies describing melanoma in NF1 populations, NF1 individuals had 2.55 higher odds of having melanoma compared to the general population. A nevus spilus was commonly reported among NF1 individuals with nevi (44.8%, 39/87). Our findings suggest that NF1 individuals may have a higher risk for developing melanomas and tend to have thicker melanomas and worse survival compared to the general population, highlighting the importance of cutaneous and ophthalmologic surveillance in NF1 patients. Our review also supports the association between NF1 and nevus spilus.</p>","PeriodicalId":18550,"journal":{"name":"Melanoma Research","volume":" ","pages":"437-446"},"PeriodicalIF":1.5000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10615867/pdf/","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Melanoma Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1097/CMR.0000000000000912","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2023/8/14 0:00:00","PubModel":"Epub","JCR":"Q3","JCRName":"DERMATOLOGY","Score":null,"Total":0}
引用次数: 0
Abstract
Neurofibromatosis type 1 ( NF1 ) is commonly mutated in melanoma, yet the risk of melanoma in individuals with NF1 is incompletely understood. We performed a systematic review to investigate the risk and characteristics of melanoma and melanocytic nevi in NF1 individuals. PubMed was searched for articles describing NF1 individuals with melanoma, or melanocytic nevi. Those with cutaneous and ocular melanomas were compared to the general population using Surveillance, Epidemiology, and End Results data. Fifty-three articles describing 188 NF1 patients were included (melanoma n = 82, melanocytic nevi n = 93, melanocytic nevi, and melanoma n = 13). Compared to the general population, NF1 patients with cutaneous melanomas had earlier melanoma diagnoses (49.1 vs. 58.6 years, P = 0.012), thicker tumors (3.7 vs. 1.2 mm, P = 0.006), and more frequent disease-specific deaths (27.3% vs. 8.6%, P = 0.005) with shorter survival (12.9 vs. 34.2 months, P = 0.011). Ocular melanomas made up 15.0% of all melanomas in NF1 patients versus 1.5% in the general population ( P < 0.001). In pooling all population-based studies describing melanoma in NF1 populations, NF1 individuals had 2.55 higher odds of having melanoma compared to the general population. A nevus spilus was commonly reported among NF1 individuals with nevi (44.8%, 39/87). Our findings suggest that NF1 individuals may have a higher risk for developing melanomas and tend to have thicker melanomas and worse survival compared to the general population, highlighting the importance of cutaneous and ophthalmologic surveillance in NF1 patients. Our review also supports the association between NF1 and nevus spilus.
期刊介绍:
Melanoma Research is a well established international forum for the dissemination of new findings relating to melanoma. The aim of the Journal is to promote the level of informational exchange between those engaged in the field. Melanoma Research aims to encourage an informed and balanced view of experimental and clinical research and extend and stimulate communication and exchange of knowledge between investigators with differing areas of expertise. This will foster the development of translational research. The reporting of new clinical results and the effect and toxicity of new therapeutic agents and immunotherapy will be given emphasis by rapid publication of Short Communications. Thus, Melanoma Research seeks to present a coherent and up-to-date account of all aspects of investigations pertinent to melanoma. Consequently the scope of the Journal is broad, embracing the entire range of studies from fundamental and applied research in such subject areas as genetics, molecular biology, biochemistry, cell biology, photobiology, pathology, immunology, and advances in clinical oncology influencing the prevention, diagnosis and treatment of melanoma.