电邮这篇文章 Hereditary pheochromocytoma-associated syndromes. Part 1
- 作者: Yukina MY.1, Troshina EA1, Beltsevich DG1
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隶属关系:
- «Эндокринологический научный центр» Минздрава России
- 期: 卷 87, 编号 9 (2015)
- 页面: 102-105
- 栏目: Editorial
- URL: https://journals.rcsi.science/0040-3660/article/view/31836
- ID: 31836
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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 new ideas of the genetic bases of PCC. The authors discuss criteria for patient referral for genetic examination on the basis of the phenotypic manifestations of mutations, such as a malignant course, bilateral adrenal lesion, and age at disease manifestations. Recommendations are determined for carriers to screen for the components of hereditary pathology.
作者简介
M Yukina
«Эндокринологический научный центр» Минздрава РоссииМосква, Россия
E Troshina
«Эндокринологический научный центр» Минздрава РоссииМосква, Россия
D Beltsevich
«Эндокринологический научный центр» Минздрава РоссииМосква, Россия
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