Journal of Kidney Cancer and VHL (Dec 2018)

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

DOI
https://doi.org/10.15586/jkcvhl.2018.113
Journal volume & issue
Vol. 5, no. 4

Abstract

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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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