Solid Tumors in RASopathies
Incidence and Molecular Pathogenesis of Solid Tumors in RASopathies
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
100 participants
Oct 12, 2021
INTERVENTIONAL
Conditions
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.
Eligibility
Plain Language Summary
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Interventions
NGS analysis on tumor sample
Locations(1)
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NCT05761314