Genetics of Adrenocortical Development and Tumors

• Autores: Maya Lodish
• Localización: Endocrinology and metabolism clinics of North America, ISSN 0889-8529, Vol. 46, Nº. 2, 2017 (Ejemplar dedicado a: Genetics of Endocrine Disorders), págs. 419-433
• Idioma: inglés
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• Resumen

  • This article links the understanding of developmental physiology of the adrenal cortex to adrenocortical tumor formation. Many molecular mechanisms that lead to formation of adrenocortical tumors have been discovered via next-generation sequencing approaches. The most frequently mutated genes in adrenocortical tumors are also factors in normal adrenal development and homeostasis, including those that alter the p53 and Wnt/β-catenin pathways. In addition, dysregulated protein kinase A signaling and ARMC5 mutations have been identified as key mediators of adrenocortical tumorigenesis. The growing understanding of genetic changes that orchestrate adrenocortical development and disease pave the way for potential targeted treatment strategies.