Hereditary pheochromocytoma-associated syndromes. Part 2
| Autor: | M Yu Yukina, E A Troshina, D G Beltsevich |
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| Jazyk: | ruština |
| Rok vydání: | 2015 |
| Předmět: | |
| Zdroj: | Терапевтический архив, Vol 87, Iss 10, Pp 115-119 (2015) |
| Druh dokumentu: | article |
| ISSN: | 0040-3660 2309-5342 |
| Popis: | 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. |
| Databáze: | Directory of Open Access Journals |
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