Succinate Dehydrogenase Gene Mutations in Cardiac Paragangliomas
نویسندگان
چکیده
منابع مشابه
Biochemically silent abdominal paragangliomas in patients with mutations in the succinate dehydrogenase subunit B gene.
CONTEXT Patients with adrenal and extra-adrenal abdominal paraganglioma (PGL) almost invariably have increased plasma and urine concentrations of metanephrines, the O-methylated metabolites of catecholamines. We report four cases of biochemically silent abdominal PGL, in which metanephrines were normal despite extensive disease. OBJECTIVE Our objective was to identify the mechanism underlying...
متن کاملMediastinal paragangliomas: association with mutations in the succinate dehydrogenase genes and aggressive behavior.
Extra-adrenal pheochromocytomas, otherwise known as paragangliomas (PGLs), account for about 20% of catecholamine-producing tumors. Catecholamine excess and mutations in the genes encoding succinate dehydrogenase subunits (SDHx) are frequently found in patients with PGLs. Only 2% of PGLs are found in the mediastinum, and little is known about genetic alterations in patients with mediastinal PGL...
متن کاملA novel succinate dehydrogenase subunit B gene mutation, H132P, causes familial malignant sympathetic extraadrenal paragangliomas.
We report a family with malignant sympathetic paragangliomas (PGL) exhibiting a new type of germline mutation in the succinate dehydrogenase subunit B (SDHB) gene. Two affected brothers, presenting with symptoms at the ages of 25 and 52 yr, suffered from malignant abdominal extraadrenal sympathetic PGL. They died of their disease at ages 43 and 61 yr. Their mother had the same history of signs ...
متن کاملMediastinal paragangliomas related to SDHx gene mutations
INTRODUCTION Paragangliomas (PGLs) related to hereditary syndromes are rare mediastinal tumors. Paragangliomas are caused by mutations in genes encoding subunits of succinate dehydrogenase enzyme (SDH). AIM To evaluate clinical, anatomical and functional characteristics of mediastinal paragangliomas related to SDHx gene mutations. MATERIAL AND METHODS Retrospective analysis of 75 patients w...
متن کاملFrequent germ-line succinate dehydrogenase subunit D gene mutations in patients with apparently sporadic parasympathetic paraganglioma.
PURPOSE Recently, familial paraganglioma (PGL) was shown to be caused bymutations in the gene encoding succinate dehydrogenase subunit D (SDHD). However, the prevalence of SDHD mutations in apparently sporadic PGL is unknown. We studied the frequency and spectrum of germ-line and somatic SDHD mutations in patients with parasympathetic PGL. EXPERIMENTAL DESIGH: We studied 57 unselected patients ...
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ژورنال
عنوان ژورنال: The American Journal of Cardiology
سال: 2015
ISSN: 0002-9149
DOI: 10.1016/j.amjcard.2015.03.020