Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies

What this Trial Is About

RASopathies are genetic syndromes caused by changes in genes that regulate the Ras/MAP/ERK 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