DICER1 Syndrome: A Multicenter Surgical Experience and Systematic Review

SIMPLE SUMMARY: DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Currently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients’ outcomes, especially for further neoplasms, which are entailed in this syndrome. For this reason, herein we present a nationwide multicenter report of DICER1 syndrome in the pediatric population, with the prospective aim of enhancing post-surgical surveillance. Moreover, a comprehensive literature review of DICER1 cases, including case reports and multicenter studies published from 1996 to June 2022, was performed. Eventually, the retrieved data from the literature were compared with the data emerging from our cohort of patients. The early identification of patients affected by this mutation would allow a timely screening program, thus avoiding diagnostic delays. ABSTRACT: DICER1 syndrome is a rare genetic disorder that predisposes patients to the development of malignant and non-malignant diseases. Presently, DICER1 syndrome diagnosis still occurs late, usually following surgical operations, affecting patients’ outcomes, especially for further neoplasms, which are entailed in this syndrome. For this reason, herein we present a multicenter report of DICER1 syndrome, with the prospective aim of enhancing post-surgical surveillance. A cohort of seven patients was collected among the surgical registries of Pediatric Surgery at the University of Pisa with the General and Oncologic Surgery of Federico II, University of Naples, and the Pediatric Surgery, Regina Margherita Hospital, University of Turin. In each case, the following data were analyzed: sex, age at diagnosis, age at first surgery, clinical features, familial, genetic investigations, and follow-up. A comprehensive literature review of DICER1 cases, including case reports and multicenter studies published from 1996 to June 2022, was performed. Eventually, the retrieved data from the literature were compared with the data emerging from our cohort of patients.