Tumor development in patients with neurofibromatosis type 1: A retrospective cohort study including 644 patients

NF1,

To the Editor: Neurofibromatosis type 1 (NF1) is an autosomal dominant cancer predisposition syndrome due to loss-of-function mutations in the tumor suppressor gene NF1.Patients with NF1 have 5% to 15% higher risk of neoplasm development than the general population, with earlier age of onset. 1 Since NF1-associated neoplasm prevalence remains understudied, we conducted a retrospective study assessing prevalence of NF-1 associated benign and malignant nonneurofibroma tumors.
Our study is one of few large-scale studies examining prevalence of a broad range of NF1associated neoplasia.Our findings were similar to Landry et al's retrospective cohort study 1 of 1607 patients with NF1 (median age 19 years), with the exception of their higher prevalence of malignant peripheral nerve sheath tumor (15.1%), which may be due to sampling bias.
In our study, basal cell carcinoma was rare, and no patients were diagnosed with squamous cell carcinoma or melanoma, similar to Landry et al 1 reporting nonmelanoma and melanoma prevalence 0.9% each.Trinh et al's retrospective case control study 2 of 4122 patients with NF1 (mean age 47 years) found basal cell carcinoma, squamous cell carcinoma, and melanoma prevalence of 4.3%, 2.6%, and 1.8% respectively, with increased melanoma (odds ratio, 2.27; 95% CI, 1.75-2.93)and keratinocyte carcinoma risk (odds ratio, 1.31; 95% CI, 1.15-1.51).Comparatively lower skin cancer prevalence in our and Landry's studies 2 may be due to young age.
Our study is limited by retrospective singlecenter design.Clinical detail per case was heterogeneously reported.Not all patients had long term follow-up.
Our study highlights the importance of awareness of malignancy screening guidelines for patients with NF1, including breast cancer screening beginning at age 30 in women, biochemical testing for pheochromocytoma and paraganglioma in the setting of unexplained high blood pressure, and regional magnetic resonance imaging for malignant peripheral nerve sheath tumor in the setting of new pain or motor deficit. 5ur cohort study confirms prevalence and broad range of nonneurofibroma neoplasms in patients with NF1, underscoring importance of counseling and regular screening.

Table I .
Demographic characteristics of patients with neurofibromatosis type 1 NF1, Neurofibromatosis type 1.

Table II .
Nonneurofibroma neoplasms in patients with neurofibromatosis type 1 ª 2024 by the American Academy of Dermatology, Inc. Published by Elsevier Inc.This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).
Glomus tumor and skin cancer prevalence was surprisingly low, likely due to underdiagnosis and young age.Prospective studies with age stratification are needed to assess risk of NF-1 associated glomus tumors.Kaya L. Curtis, BA, a Samantha Jo Albucker, BA, b Victoria De Barros, BS, a Yuqing Qiu, MS, c and Shari R. Lipner, MD, PhD d From the Weill Cornell Medical College, New York, New York a ; Tulane University School of Medicine, New Orleans, Louisiana b ; Department of Population Health Sciences, Weill Cornell Medicine, New York, New York c ; and Department of Dermatology, Weill Cornell Medicine, New York, New York.d