Study of Solid Tumors in Patients with RASopathies Including Costello, Cardio-Facio-Cutaneous, and Noonan Syndromes Molecular Analysis of Tumor Samples Using Next Generation Sequencing

What this Trial Is About

RASopathies are genetic syndromes caused by changes in genes that regulate the RasMAPERK pathway, which plays a key role in development, organ formation, brain growth, and cell communication. These syndromes often involve multiple organs and can lead to growth delays, early aging, and blood-related cancers. Researchers are studying how common solid tumors non-blood cancers are in patients with RASopathies and are working to understand the molecular causes of these tumors. The study involves analyzing tissue samples from individuals with RASopathies using Next Generation Sequencing NGS. This diagnostic approach aims to characterize the molecular features of solid tumors found in these patients. The study is focused on reporting the prevalence of such tumors in a single center cohort and performing detailed genetic analysis on tumor samples. Participants will be monitored over five years to assess how often solid tumors occur and to gather molecular data from tumor tissues. The study collects clinical information and conducts genetic testing on tumor samples to help understand tumor development. This research is led by Fondazione Policlinico Universitario Agostino Gemelli IRCCS and is designed to improve knowledge about cancer risks and biology in people with RASopathies.

Solid Tumors in RASopathies