[Rare forms of hereditary endocrine neoplasia: co-existence of pituitary adenoma and pheochromocytoma/paraganglioma].

Q4 Medicine
E O Mamedova, D V Lisina, Zh E Belaya
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引用次数: 1

Abstract

Functioning pituitary adenomas and pheochromocytomas/paragangliomas are rare in the general population. Pituitary adenomas occur in the familial setting in approximately 5% of cases, whereas pheochromocytomas/paragangliomas can be hereditary in 30-40% of cases. Hereditary syndromes associated with pituitary adenomas include multiple endocrine neoplasia types 1 and 4, familial isolated pituitary adenomas, and Carney complex. Hereditary syndromes associated with pheochromocytomas/paragangliomas and genes, mutations in which predispose to their development, are more numerous. The first clinical descriptions of the co-occurrence of pituitary adenoma and pheochromocytoma/paraganglioma in one patient date back to the mid 20th century, however delineating such a co-occurrence into a particular syndrome («3PAs» (pituitary adenoma, pheochromocytoma, paraganglioma)) was suggested only in 2015. To date, approximately 100 cases of such a co-occurrence have been described in the literature. Mutations in genes encoding subunits of succinate dehydrogenase complex II (SDHx) are revealed in the majority of cases, much less common are mutations in MAX, MEN1 and some other genes. This review summarizes the current information on the «3PAs» syndrome.

[罕见形式的遗传性内分泌瘤:垂体腺瘤和嗜铬细胞瘤/副神经节瘤共存]。
功能性垂体腺瘤和嗜铬细胞瘤/副神经节瘤在一般人群中是罕见的。大约5%的垂体腺瘤发生在家族性背景下,而嗜铬细胞瘤/副神经节瘤可在30-40%的病例中遗传。与垂体腺瘤相关的遗传综合征包括1型和4型多发性内分泌瘤、家族性孤立性垂体腺瘤和卡尼复合物。与嗜铬细胞瘤/副神经节瘤和基因相关的遗传综合征,易导致其发展的突变,则更多。首次临床描述垂体腺瘤和嗜铬细胞瘤/副神经节瘤同时出现在一名患者身上可以追溯到20世纪中期,然而,将这种共同出现描述为一种特定的综合征(«3PAs»(垂体腺瘤、嗜铬细胞瘤、副神经节瘤))直到2015年才被提出。迄今为止,文献中已经描述了大约100例这种同时发生的病例。琥珀酸脱氢酶复合体II (SDHx)亚基编码基因的突变在大多数病例中发现,而MAX、MEN1和其他一些基因的突变则较少见。这篇综述总结了目前关于“3PAs”综合征的信息。
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来源期刊
Problemy endokrinologii
Problemy endokrinologii Medicine-Endocrinology, Diabetes and Metabolism
CiteScore
1.40
自引率
0.00%
发文量
59
期刊介绍: Since 1955 the “Problems of Endocrinology” (or “Problemy Endocrinologii”) Journal publishes timely articles, balancing both clinical and experimental research, case reports, reviews and lectures on pressing problems of endocrinology. The Journal is aimed to the most topical issues of endocrinology: to chemical structure, biosynthesis and metabolism of hormones, the mechanism of their action at cellular and molecular level; pathogenesis and to clinic of the endocrine diseases, new methods of their diagnostics and treatment. The Journal: features original national and foreign research articles, reflecting world endocrinology development; issues thematic editions on specific areas; publishes chronicle of major international congress sessions and workshops on endocrinology, as well as state-of-the-art guidelines; is intended for scientists, endocrinologists diabetologists and specialists of allied trade, general practitioners, family physicians and pediatrics.
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