Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?

ABSTRACT: Context: The DICER1 syndrome is a multiple neoplasia disorder caused by germline mutations in the DICER1 gene. In DICER1 patients, aggressive congenital pituitary tumors lead to neonatal Cushing's disease (CD). The role of DICER1 in other corticotropinomas, however, remains unknown. Objective: To perform a comprehensive screening for DICER1 variants in a large cohort of CD patients, and to analyze their possible contribution to the phenotype. Design, setting, patients, and interventions: We included 192 CD cases: ten young-onset (age <30 years at diagnosis) patients were studied using a next generation sequencing panel, and 182 patients (170 pediatric and 12 adults) were screened via whole-exome sequencing. In seven cases, tumor samples were analyz

SUBMITTER: Martinez de LaPiscina I 

PROVIDER: S-EPMC7351020 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature