NCT05761314

Solid Tumors in RASopathies

Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies

• Status: Recruiting
• Phase: N/A
• Study type: Interventional
• Enrollment: 100 (estimated)
• Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS · Academic / Other
• Sex: All
• Age: —
• Healthy volunteers: Accepted

Summary

RASopathies are a group of syndromes, caused by variants of genes involved in the regulation of the Ras/MAP/ERK pathway. This intracellular transduction pathway profoundly affects embryogenic development, organogenesis, synaptic plasticity and neuronal growth. RASopathies are characterized by multi-organ involvement, growth delay, premature aging and haemato-oncological manifestations. Based on evidences provided by literature, cancer screening protocols are applied in some individuals affected by RASopathies, even though detailed information about prevalence and molecular pathogenesis of such tumors is still not clearly elucidate.

Detailed description

To define the prevalence of solid (non-haematological) neoplasms in a monocentric cohort of patients affected by RASopathies To perform Next Generation Sequencing (NGS) analysis on tissue samples to preliminarily characterize the molecular pathogenesis of solid tumors in these patients' categories.

Conditions

• RASopathy
• Costello Syndrome
• Cardio-Facio-Cutaneous Syndrome
• Noonan Syndrome

Interventions

Type	Name	Description
DIAGNOSTIC_TEST	Molecular characterization of solid tumor in RASopathies	NGS analysis on tumor sample

Timeline

• Start date: 2021-10-12
• Primary completion: 2023-10-30
• Completion: 2026-10-12
• First posted: 2023-03-09
• Last updated: 2024-04-04

Locations

1 site across 1 country: Italy