Estimated Prevalence, Tumor Spectrum, and Neurofibromatosis Type 1-Like Phenotype of CDKN2A-Related Melanoma-Astrocytoma Syndrome.

ABSTRACT:

Importance

Knowledge about the prevalence and tumor types of CDKN2A-related melanoma-astrocytoma syndrome (MAS) is limited and could improve disease recognition.

Objective

To estimate the prevalence and describe the tumor types of MAS.

Design, setting, and participants

This retrospective cohort study analyzed all available MAS cases from medical centers in the US (2 sites) and Europe (2 sites) and from biomedical population genomic databases (UK Biobank [United Kingdom], Geisinger MyCode [US]) between January 1, 1976, and December 31, 2020. Patients with MAS with CDKN2A germline pathogenic variants and 1 or more neural tumors were included. Data were analyzed from June 1, 2022, to January 31, 2023.

Main outcomes and measures

Disease prevalence and tumor frequen

SUBMITTER: Sargen MR 

PROVIDER: S-EPMC10433137 | biostudies-literature | 2023 Oct

REPOSITORIES: biostudies-literature