Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
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DOI：
10.3389/fendo.2020.00433
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发表时间：
2020-07-03
影响因子：
5.2
通讯作者：
Stratakis, Constantine A.
中科院分区：
文献类型：
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作者：
Martinez de LaPiscina, Idoia;Hernandez-Ramirez, Laura C.;Stratakis, Constantine A.
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 192CD cases: ten young-onset (age
