This is an observational study in pediatric patientis carryng PTEN pathogenic variants aimed to define oncological risk in children and provide a deeper insight of the clinical course, establishing an updated follow-up protocol.
PTEN pathogenic variants (class 4/5 SNV, gene deletion, intragenic duplication/deletion)
Pediatric patients (<18 years old) and their affected relatives, male/female, all ethnicities
The legal representative must agree to follow the screening protocol
Informed consent signed by the legal representative
Refuse to undergo the exams of the protocol assessment at the diagnosis
PTEN non-pathogenic variants (VOUS or benign/likely benign vatiants)
No signed informed consent
Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Lead sponsor
Azienda Ospedaliera Sant'Anna
Collaborator
Fondazione Policlinico Universitario Agostino Gemelli IRCCS
Collaborator