Rare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
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2020-07-03
Authors
Martínez de LaPiscina, Idoia
Hernández-Ramírez, Laura C
Portillo, Nancy
Gómez-Gila, Ana L
Urrutia, Inés
Martínez-Salazar, Rosa
García-Castaño, Alejandro
Aguayo, Aníbal
Rica, Itxaso
Gaztambide, Sonia
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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
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MeSH Terms
Adolescent
Adult
Child
Cohort Studies
DEAD-box RNA Helicases
Female
Genetic Testing
Germ-Line Mutation
Humans
Male
Pituitary ACTH Hypersecretion
Ribonuclease III
Young Adult
Adult
Child
Cohort Studies
DEAD-box RNA Helicases
Female
Genetic Testing
Germ-Line Mutation
Humans
Male
Pituitary ACTH Hypersecretion
Ribonuclease III
Young Adult
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Keywords
Cushing's disease, DICER1, corticotropinoma, disease-modifying gene, pituitary neuroendocrine tumor