About this trial
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.
Eligibility criteria
Qualifiers
Clinical and molecularly confirmed diagnosis of a RASopathy
Disqualifiers
Clinical diagnosis of RASopathy without molecular characterization
Trial design
Treatments tested in this trial
- Molecular characterization of solid tumor in RASopathies