Clinical MEN-1 Among a Large Cohort of Patients With Acromegaly

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dc.contributor.authorNachtigall, Lisa B.
dc.contributor.authorGuarda, Francisco J.
dc.contributor.authorLines, Kate E.
dc.contributor.authorGhajar, Alireza
dc.contributor.authorDichtel, Laura
dc.contributor.authorMumbach, Giselle
dc.contributor.authorZhao, Wenxiu
dc.contributor.authorZhang, Xun
dc.contributor.authorTritos, Nicholas A.
dc.contributor.authorSwearingen, Brooke
dc.contributor.authorMiller, Karen K.
dc.contributor.authorThakker, Rajesh, V
dc.date.accessioned2025-01-23T19:49:32Z
dc.date.available2025-01-23T19:49:32Z
dc.date.issued2020
dc.description.abstractContext: Clinical multiple endocrine neoplasia type 1 (MEN-1) is diagnosed by the presence of at least 2 MEN-1-associated tumors. Many patients with acromegaly and clinical MEN-1 yield negative testing for MEN1 mutations. While cases of acromegaly and primary hyperparathyroidism (PHP) with negative genetic testing have been reported, its prevalence among patients with acromegaly is undetermined, and the clinical presentation has not been well characterized.
dc.description.abstractObjectives: The main goals of this study are: (1) To determine the prevalence of clinical MEN-1 with PHP in patients with acromegaly and characterize their clinical features; and (2) to evaluate the genetic basis for the coexistence of acromegaly and PHP.
dc.description.abstractDesign: Retrospective record review and genetic analysis.
dc.description.abstractSetting: Clinical Research Centers.
dc.description.abstractParticipants: 414 patients with acromegaly.
dc.description.abstractInterventions: Clinical evaluation and DNA sequencing for MEN1, CDKN1A, CDKN1B, CDKN2B, CDKN2C, and A/P genes.
dc.description.abstractMain outcome measurements: Clinical and genetic analysis.
dc.description.abstractResults: Among patients with acromegaly, clinical MEN-1, as defined by the presence of at least one other MEN-1-associated tumor, was present in 6.6%. PHP occurred in 6.1%; more than half had parathyroid hyperplasia. DNA sequencing was unrevealing for genetic mutations, except for 1 case of a CDC73 mutation. Acromegaly was diagnosed at an older age with a higher prevalence of malignancies (specifically breast and thyroid) in patients with coexisting PHP than those with isolated acromegaly.
dc.description.abstractConclusions: A distinct phenotype is described in patients with clinical MEN-1 and negative genetic testing for mutations previously associated with this syndrome. Further studies are needed to identify other genes that may explain the association between PHP and acromegaly.
dc.fuente.origenWOS
dc.identifier.doi10.1210/clinem/dgaa142
dc.identifier.eissn1945-7197
dc.identifier.issn0021-972X
dc.identifier.urihttps://doi.org/10.1210/clinem/dgaa142
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/100509
dc.identifier.wosidWOS:000553452200017
dc.issue.numero6
dc.language.isoen
dc.pagina.finalE2281
dc.pagina.inicioE2271
dc.revistaJournal of clinical endocrinology & metabolism
dc.rightsacceso restringido
dc.subjectacromegaly
dc.subjecthyperparathyroidism
dc.subjectmultiple endocrine neoplasia type 1 (MEN-1)
dc.subjectMEN-1 phenocopy
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleClinical MEN-1 Among a Large Cohort of Patients With Acromegaly
dc.typeartículo
dc.volumen105
sipa.indexWOS
sipa.trazabilidadWOS;2025-01-12
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