Update on Pediatric Cancer Surveillance Recommendations for Patients with Neurofibromatosis Type 1, Noonan Syndrome, CBL Syndrome, Costello Syndrome, and Related RASopathies.
Melissa R PerrinoAnirban DasSarah R ScollonSarah G MitchellMary-Louise C GreerMarielle E YoheJordan R HansfordJennifer M KalishKris Ann P SchultzSuzanne P MacFarlandWendy K KohlmannPhilip J LupoKara N MaxwellStefan M PfisterRosanna WeksbergOrli MichaeliMarjolijn C J JongmansGail E TomlinsonJack J BrzezinskiUri TaboriGina M NeyKaren W GrippAndrea M GrossBrigitte C WidemannDouglas R StewartEmma Roisin WoodwardChristian Peter KratzPublished in: Clinical cancer research : an official journal of the American Association for Cancer Research (2024)
Neurofibromatosis type 1 (NF1), Noonan syndrome and related syndromes, grouped as the RASopathies, result from dysregulation of the RAS-MAPK pathway and demonstrate varied multisystemic clinical phenotypes. Together the RASopathies are among the more prevalent genetic cancer predisposition syndromes and require nuanced clinical management. When compared to the general population, children with RASopathies are at significantly increased risk of benign and malignant neoplasms. In the last 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 multi-disciplinary care needed for such individuals, specifically those with NF1. This perspective, which originated from the 2023 AACR Childhood Cancer Predisposition Workshop, serves to update pediatric oncologists, neurologists, geneticists, counselors, and other healthcare professionals on revised diagnostic criteria, review previously published surveillance guidelines, and harmonize updated surveillance recommendations for patients with NF1 or RASopathies.
Keyphrases
- childhood cancer
- signaling pathway
- low grade
- young adults
- public health
- clinical trial
- oxidative stress
- lps induced
- papillary thyroid
- pi k akt
- case report
- healthcare
- clinical practice
- nuclear factor
- type diabetes
- genome wide
- metabolic syndrome
- squamous cell carcinoma
- gene expression
- skeletal muscle
- randomized controlled trial
- cell proliferation
- open label
- pain management
- inflammatory response
- insulin resistance
- dna methylation
- copy number
- phase ii
- advanced cancer
- phase iii