Clinical Syndromes and Genetic Screening Strategies of Pheochromocytoma and Paraganglioma

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


Biochemical tests, clinical syndrome, genetic screening, Immunohistochemistry, Pheochromocytoma, 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) 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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