Solid Tumors in RASopathies
For patients and families
In plain language
An automatic summary of structured registry data. It is an orientation aid, not a substitute for the official protocol or a physician assessment.
- What is being studied
- The protocol lists: Molecular characterization of solid tumor in RASopathies.
- Who it may be relevant to
- Registry conditions: RASopathy, Costello Syndrome, Cardio-Facio-Cutaneous Syndrome, Noonan Syndrome. Basic parameters: No limits · All.
- What needs checking
- Age, condition and sex are only basic indicators. Prior treatment, laboratory values and other mandatory requirements appear in the eligibility criteria below.
- Where it takes place
- Italy
- Next step
- Save the trial, show it to the treating physician, and confirm current recruitment with the study center. Costs, documents and travel →
Unsure about the terms? Read our patient guide →
Official title
Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
Overview
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.
Interventions
- Diagnostic test Molecular characterization of solid tumor in RASopathies
NGS analysis on tumor sample
Primary outcome measures
- Prevalence of solid tumors in RASopathies [Time frame: 5 years]
Secondary outcome measures (1)
- Molecular characterization of solid tumors in RASopathies [Time frame: 5 years]
Eligibility criteria
Inclusion criteria
- Clinical and molecularly confirmed diagnosis of a RASopathy
Exclusion criteria
- Clinical diagnosis of RASopathy without molecular characterization
Criteria are shown verbatim from the registry (in English). Final eligibility is always assessed by the study center.
Healthy volunteers: Yes
Study design
- Allocation
- N/A
- Model
- Single group
- Masking
- Open label
- Primary purpose
- Diagnostic
Study locations
Italy · 1 center
- Department of Woman and Child Health and Public Health, Fondazione Policlinico A. Gemelli, — Roma
Identifiers
NCT: NCT05761314 · 4218