Solid Tumors in RASopathies (4218)

Institute of Hospitalization and Scientific Care (IRCCS)

Status: Enrolling

Conditions: Costello Syndrome; Noonan Syndrome; RASopathy; Cardio-Facio-Cutaneous Syndrome

Treatments: Diagnostic Test: Molecular characterization of solid tumor in RASopathies

Study type: Interventional

Funder types: Other

Identifiers

NCT05761314

4218

Details and patient eligibility

About

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.

Full 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.

Enrollment: 100 estimated patients

Sex: All

Volunteers: Accepts Healthy Volunteers

Inclusion criteria

• Clinical and molecularly confirmed diagnosis of a RASopathy

Exclusion criteria

• Clinical diagnosis of RASopathy without molecular characterization

Trial design

Primary purpose: Diagnostic

Allocation: N/A

Interventional model: Single Group Assignment

Masking: None (Open label)

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100 participants in 1 patient group

Case group

Experimental group

Description:

To report the prevalence of solid tumors in a monocentric cohort of individuals with RASopathies

Treatment:

Diagnostic Test: Molecular characterization of solid tumor in RASopathies