Insights into Mechanisms of Pheochromocytomas and Paragangliomas Driven by Known or New Genetic Drivers

Cancers

Shahida K. Flores¹  Cynthia M. Estrada-Zuniga¹  Patricia L. M. Dahia¹  Keerthi Thallapureddy¹  Gustavo Armaiz-Peña¹ 

[1] Department of Medicine, University of Texas Health San Antonio, San Antonio, TX 78229, USA;

关键词: pheochromocytomas;    paragangliomas;    mutations;    susceptibility genes;    driver mutations;    hereditary;   

DOI  :  10.3390/cancers13184602

来源: DOAJ

【 摘 要 】

Pheochromocytomas and paragangliomas are rare tumors of neural crest origin. Their remarkable genetic diversity and high heritability have enabled discoveries of bona fide cancer driver genes with an impact on diagnosis and clinical management and have consistently shed light on new paradigms in cancer. In this review, we explore unique mechanisms of pheochromocytoma and paraganglioma initiation and management by drawing from recent examples involving rare mutations of hypoxia-related genes VHL, EPAS1 and SDHB, and of a poorly known susceptibility gene, TMEM127. These models expand our ability to predict variant pathogenicity, inform new functional domains, recognize environmental-gene connections, and highlight persistent therapeutic challenges for tumors with aggressive behavior.

【 授权许可】

Unknown