Solid Tumors in RASopathies

Not Applicable

Recruiting

• Conditions: RASopathy; Costello Syndrome; Cardio-Facio-Cutaneous Syndrome; Noonan Syndrome
• Interventions: Diagnostic Test: Molecular characterization of solid tumor in RASopathies

• Registration Number: NCT05761314
• Lead Sponsor: Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Brief 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.

Study Timeline

• Study Start: 2021-10-12
• Study First Submitted: 2023-02-27
• Study First Submitted QC: 2023-02-27
• Study First Posted: 2023-03-09
• Primary Completion: 2023-10-30
• Status Verified: 2024-04
• Last Update Submitted: 2024-04-03
• Last Update Posted: 2024-04-04
• Study Completion: 2026-10-12

Recruitment & Eligibility

• Status: RECRUITING
• Sex: All
• Target Recruitment: 100

Inclusion Criteria

• Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion Criteria

• Clinical diagnosis of RASopathy without molecular characterization

Study & Design

• Study Type: INTERVENTIONAL
• Study Design: SINGLE_GROUP

Arm && Interventions

Group	Intervention	Description
Case group	Molecular characterization of solid tumor in RASopathies	To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies

Primary Outcome Measures

Name	Time	Method
Prevalence of solid tumors in RASopathies	5 years	To detect prevalence of solid tumors in monocentric cohort of RASopathies

Secondary Outcome Measures

Name	Time	Method
Molecular characterization of solid tumors in RASopathies	5 years	NGS analysis on tumor tissue samples

Trial Locations

Locations (1)

Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, IRCCS; 🇮🇹 Roma, Italy