Email this article Hereditary pheochromocytoma-associated syndromes. Part 2
- Authors: Yukina MY.1, Troshina EA1, Beltsevich DG1
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Affiliations:
- Issue: Vol 87, No 10 (2015)
- Pages: 115-119
- Section: Editorial
- URL: https://ter-arkhiv.ru/0040-3660/article/view/31856
- ID: 31856
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Abstract
Pheochromocytoma (PCC)/paraganglioma is a catecholamine-secreting tumor of the paraganglion. The hereditary variants of PCC have been previously considered to occur in 10% of cases. The latest researches have clearly demonstrated that the hereditary cause of chromaffin tumors is revealed in a much larger number of patients. There have been the most investigated NF, RET, VHL, SDHD, SDHC, and SDHB gene mutations. New EGLN1/PHD2, KIF1В, SDH5/SDHAF2, IDH1, TMEM127, SDHA, MAX, and HIF2А gene mutations have been recently discovered. This review describes the most common PCC-associated syndromes in detail and considers the specific features of new mutations.
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