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

Autor:	Shahida K. Flores, Cynthia M. Estrada-Zuniga, Keerthi Thallapureddy, Gustavo Armaiz-Peña, Patricia L. M. Dahia
Jazyk:	angličtina
Rok vydání:	2021
Předmět:	pheochromocytomas paragangliomas mutations susceptibility genes driver mutations hereditary Neoplasms. Tumors. Oncology. Including cancer and carcinogens RC254-282
Zdroj:	Cancers, Vol 13, Iss 18, p 4602 (2021)
Druh dokumentu:	article
ISSN:	2072-6694
DOI:	10.3390/cancers13184602
Popis:	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.
Databáze:	Directory of Open Access Journals
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