Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies

2024/08/28 by Melissa R. Perrino, Anirban Das, Sarah Scollon +24 · 1 voice · 1 citation
Biochemistry, Genetics and Molecular Biology · Medicine · #Neurofibromatosis and Schwannoma Cases #Peptidase Inhibition and Analysis #Protein Tyrosine Phosphatases

paper · pdf · doi:10.1158/1078-0432.ccr-24-1611

openalex publication_date 2024/08/28 · openalex created_date 2025/10/10 · openalex updated_date 2026/07/31

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.

Citations

• Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1—a consensus overview
• Prevalence of bladder cancer in Costello syndrome: New insights to drive clinical decision‐making

Cited by

• Neurofibromatosis type 1 (NF1): A Hungarian study – Clinical features and a suggested protocol

Discussions

• Today, we are highlighting #CostelloSyndrome a rare #RASopathy caused by pathogenic #HRAS mutations, occurring ~1:380,000 births. Individuals with CS have a 13% ⬆️ risk of malignancy -> rhabdomyosarco [bsky, 3 points, 2 comments]

Related

• Pediatric cancer predisposition syndromes involving non-central nervous system solid pediatric tumors: a review on their manifestations with a focus on histopathology
• Novel therapeutic perspectives in Noonan syndrome and RASopathies
• Malignant peripheral nerve sheath tumours in neurofibromatosis 1
• Neurofibromatosis type 1 (NF1): A Hungarian study – Clinical features and a suggested protocol
• Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome