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

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dc.contributor.authorMartínez de LaPiscina, Idoia
dc.contributor.authorHernández-Ramírez, Laura C
dc.contributor.authorPortillo, Nancy
dc.contributor.authorGómez-Gila, Ana L
dc.contributor.authorUrrutia, Inés
dc.contributor.authorMartínez-Salazar, Rosa
dc.contributor.authorGarcía-Castaño, Alejandro
dc.contributor.authorAguayo, Aníbal
dc.contributor.authorRica, Itxaso
dc.contributor.authorGaztambide, Sonia
dc.contributor.authorFaucz, Fabio R
dc.contributor.authorKeil, Margaret F
dc.contributor.authorLodish, Maya B
dc.contributor.authorQuezado, Martha
dc.contributor.authorPankratz, Nathan
dc.contributor.authorChittiboina, Prashant
dc.contributor.authorLane, John
dc.contributor.authorKay, Denise M
dc.contributor.authorMills, James L
dc.contributor.authorCastaño, Luis
dc.contributor.authorStratakis, Constantine A
dc.date.accessioned2025-01-07T15:43:49Z
dc.date.available2025-01-07T15:43:49Z
dc.date.issued2020-07-03
dc.description.abstractContext: 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
dc.identifier.doi10.3389/fendo.2020.00433
dc.identifier.issn1664-2392
dc.identifier.pmcPMC7351020
dc.identifier.pmid32714280
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC7351020/pdf
dc.identifier.unpaywallURLhttps://www.frontiersin.org/articles/10.3389/fendo.2020.00433/pdf
dc.identifier.urihttps://hdl.handle.net/10668/27352
dc.journal.titleFrontiers in endocrinology
dc.journal.titleabbreviationFront Endocrinol (Lausanne)
dc.language.isoen
dc.organizationSAS - Hospital Universitario Virgen del Rocío
dc.page.number433
dc.pubmedtypeCase Reports
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, N.I.H., Intramural
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.rightsAttribution 4.0 International
dc.rights.accessRightsopen access
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectCushing's disease
dc.subjectDICER1
dc.subjectcorticotropinoma
dc.subjectdisease-modifying gene
dc.subjectpituitary neuroendocrine tumor
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshChild
dc.subject.meshCohort Studies
dc.subject.meshDEAD-box RNA Helicases
dc.subject.meshFemale
dc.subject.meshGenetic Testing
dc.subject.meshGerm-Line Mutation
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshPituitary ACTH Hypersecretion
dc.subject.meshRibonuclease III
dc.subject.meshYoung Adult
dc.titleRare Germline DICER1 Variants in Pediatric Patients With Cushing's Disease: What Is Their Role?
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number11

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