Your browser doesn't support javascript.
loading
Somatic mutations in adrenocortical carcinoma with primary aldosteronism or hyperreninemic hyperaldosteronism.
Mouat, Isobel C; Omata, Kei; McDaniel, Andrew S; Hattangady, Namita G; Talapatra, Debnita; Cani, Andi K; Hovelson, Daniel H; Tomlins, Scott A; Rainey, William E; Hammer, Gary D; Giordano, Thomas J; Else, Tobias.
Afiliación
  • Mouat IC; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Omata K; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • McDaniel AS; Michigan Center for Translational Pathology, Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Hattangady NG; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Talapatra D; Michigan Center for Translational Pathology, Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Cani AK; Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Hovelson DH; Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Tomlins SA; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Rainey WE; Michigan Center for Translational Pathology, Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Hammer GD; Michigan Center for Translational Pathology, Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Giordano TJ; Department of Computational Medicine and Bioinformatics, University of Michigan Medical School, Ann Arbor, Michigan, USA.
  • Else T; Department of Pathology, University of Michigan Medical School, Ann Arbor, Michigan, USA.
Endocr Relat Cancer ; 26(2): 217-225, 2019 02.
Article en En | MEDLINE | ID: mdl-30475217
Several somatic mutations specific to aldosterone-producing adenomas (APAs) have been described. A small proportion of adrenocortical carcinomas (ACCs) are associated with hyperaldosteronism, either primary aldosteronism or hyperreninemic hyperaldosteronism. However, it is unknown whether they harbor mutations of the same spectrum as APAs. The objective of this study is to describe the clinical phenotype and molecular genotype of ACCs with hyperaldosteronism, particularly the analysis for common APA-associated genetic changes. Patients were identified by retrospective chart review at a specialized referral center and by positive staining for CYP11B2 of tissue microarrays. Twenty-five patients with ACC and hyperaldosteronism were initially identified by retrospective chart review, and tissue for further analysis was available on 13 tumors. Seven patients were identified by positive staining for CYP11B2 in a tissue microarray, of which two were already identified in the initial chart review. Therefore, a total number of 18 patients with a diagnosis of ACC and features of either primary aldosteronism or hyperreninemic hyperaldosteronism were therefore included in the final study. Mutational status for a select list of oncogenes, tumor suppressor genes and genes known to carry mutations in APAs were analyzed by next-generation sequencing. Review of clinical data suggested autonomous aldosterone production in the majority of cases, while for some cases, hyperreninemic hyperaldosteronism was the more likely mechanism. The mutational landscape of ACCs associated with hyperaldosteronism was not different from ACCs with a different hormonal phenotype. None of the ACCs harbored mutations of known APA-associated genes, suggesting an alternative mechanism conferring aldosterone production.
Asunto(s)
Palabras clave
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Carcinoma Corticosuprarrenal / Secuenciación de Nucleótidos de Alto Rendimiento / Hiperaldosteronismo Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Endocr Relat Cancer Asunto de la revista: ENDOCRINOLOGIA / NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Carcinoma Corticosuprarrenal / Secuenciación de Nucleótidos de Alto Rendimiento / Hiperaldosteronismo Tipo de estudio: Observational_studies / Risk_factors_studies Límite: Adult / Aged / Female / Humans / Male / Middle aged Idioma: En Revista: Endocr Relat Cancer Asunto de la revista: ENDOCRINOLOGIA / NEOPLASIAS Año: 2019 Tipo del documento: Article País de afiliación: Estados Unidos Pais de publicación: Reino Unido