Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma

Peihua Liu, Minghao Li, Xiao Guan, Anze Yu, Qiao Xiao, Cikui Wang, Yixi Hu, Feizhou Zhu, Hongling Yin, Xiaoping Yi, Longfei Liu

Abstract


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.


Keywords


Biochemical tests; clinical syndrome; genetic screening; Immunohistochemistry; Pheochromocytoma; Paraganglioma

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DOI: http://dx.doi.org/10.15586/jkcvhl.2018.113

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Copyright (c) 2018 Peihua Liu, Minghao Li, Xiao Guan, Anze Yu, Qiao Xiao, Cikui Wang, Yixi Hu, Feizhou Zhu, Hongling Yin, Xiaoping Yi, Longfei Liu

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