Neurofibromatosis Type 1 and Risk of Skin Cancer

Abstract

This cohort study examines the odds of developing basal cell carcinoma, squamous cell carcinoma, or melanoma among insured adults with neurofibromatosis type 1.

Melanocytic neoplasms in neurofibromatosis type 1: a systematic review

“…The prevalence of melanoma in NF1 (0.67%), pooled from all population-based studies found in the literature, was significantly higher than the melanoma prevalence in the general population obtained from the SEER database (0.26%), translating to 2.55-fold increased odds of melanoma in NF1 individuals. This is in agreement with more recent large retrospective cohort studies which found the odds of melanoma to be 2.27 (1.75–2.93), and 3.9 (2.4–6.5) times higher in NF1 individuals (Table 3) [1,2]. Similarly, a population-based record-linkage study reported a 3.6 (95% CI, 2.20–5.60) relative risk of melanoma in NF1 patients matched to a national data set of hospital admissions in England [15].…”

“…The majority of the population-based studies support the association between NF1 and melanoma (11/14) [1,2,[5][6][7][8][9]11,[13][14][15], while only a few have failed to find an increased risk in NF1 [10,12,70]. One of the latter includes a retrospective cohort by Zhang et al (2019), which found a 0.12% prevalence of melanoma among 875 NF1 patients in the US [10]; however, over 54% of their NF1 cohort were less than 20 years of age while melanoma typically affects older adults.…”

“…The majority of the population-based studies support the association between NF1 and melanoma (11/14) [1,2,5–9,11,13–15], while only a few have failed to find an increased risk in NF1 [10,12,70]. One of the latter includes a retrospective cohort by Zhang et al .…”

“…Neurofibromatosis type 1 (NF1) is an inherited tumor syndrome caused by an autosomal dominant germline mutation in the NF1 gene. It affects approximately one in 3000 individuals and is associated with an increased risk for tumors derived from the neural crest including neurofibromas, malignant peripheral nerve sheath tumors, gliomas, schwannomas, pheochromocytomas, and possibly also melanoma among many others [1][2][3][4][5].…”

“…The risk of melanocytic neoplasms in NF1, however, is not fully understood. The prevalence of melanoma among NF1 patients has varied significantly among the limited number of retrospective population-based studies (0.1-5.4%) [1,2,[5][6][7][8][9][10][11][12][13][14][15], some of which support an increased risk of melanoma in NF1 while others failed to. Despite this, there has been some biological data in favor of this association.…”