Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma

Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel–Lindau (VHL) sy...

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Detalles Bibliográficos
Autores principales: Liu, Peihua, Li, Minghao, Guan, Xiao, Yu, Anze, Xiao, Qiao, Wang, Cikui, Hu, Yixi, Zhu, Feizhou, Yin, Hongling, Yi, Xiaoping, Liu, Longfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Codon Publications 2018
Materias:
Review Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6308242/
https://www.ncbi.nlm.nih.gov/pubmed/30613466
http://dx.doi.org/10.15586/jkcvhl.2018.113
Descripción
Sumario:Pheochromocytomas (PCCs) are rare neuroendocrine tumors that originate from chromaffin cells of the adrenal medulla, and paragangliomas (PGLs) are extra-adrenal pheochromocytomas. These can be mainly found in clinical syndromes including multiple endocrine neoplasia (MEN), von Hippel–Lindau (VHL) syndrome, neurofibromatosis-1 (NF-1) and familial paraganglioma (FPGL). PCCs and PGLs are thought to have the highest degree of heritability among human tumors, and it has been estimated that 60% of the patients have genetic abnormalities. This review provides an overview of the clinical syndrome and the genetic screening strategies of PCCs and PGLs. Comprehensive screening principles and strategies, along with specific screening based on clinical symptoms, biochemical tests and immunohistochemistry, are discussed.

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