Center for Medical Ethics and Health Policy Staff Publications
Publication Date
11-1-2024
Journal
Clinical Cancer Research
DOI
10.1158/1078-0432.CCR-24-1611
PMID
39196581
PMCID
PMC11530332
PubMedCentral® Posted Date
5-1-2025
PubMedCentral® Full Text Version
Author MSS
Published Open-Access
yes
Keywords
Child, Humans, Costello Syndrome, Genetic Predisposition to Disease, Neoplasms, Neurofibromatosis 1, Noonan Syndrome, ras Proteins/, Neurofibromatosis, Noonan, Costello Syndrome, RASopathies, childhood cancer, surveillance
Abstract
Neurofibromatosis type 1 (NF1), Noonan syndrome, and related syndromes, grouped as RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinical phenotypes. Together, RASopathies are among the more prevalent genetic cancer predisposition syndromes and require nuanced clinical management. When compared with the general population, children with RASopathies are at significantly increased risk of benign and malignant neoplasms. In the past decade, clinical trials have shown that targeted therapies can improve outcomes for low-grade and benign neoplastic lesions but have their own challenges, highlighting the multidisciplinary care needed for such individuals, specifically those with NF1. This perspective, which originated from the 2023 American Association for Cancer Research Childhood Cancer Predisposition Workshop, serves to update pediatric oncologists, neurologists, geneticists, counselors, and other health care professionals on revised diagnostic criteria, review previously published surveillance guidelines, and harmonize updated surveillance recommendations for patients with NF1 or RASopathies.