Biochemically silent sympathetic Paraganglioma, Pheochromocytoma or Metastatic Disease in SDHD mutation carriers
نویسندگان
چکیده
منابع مشابه
Sdhd and Sdhd/H19 Knockout Mice Do Not Develop Paraganglioma or Pheochromocytoma
BACKGROUND Mitochondrial succinate dehydrogenase (SDH) is a component of both the tricarboxylic acid cycle and the electron transport chain. Mutations of SDHD, the first protein of intermediary metabolism shown to be involved in tumorigenesis, lead to the human tumors paraganglioma (PGL) and pheochromocytoma (PC). SDHD is remarkable in showing an 'imprinted' tumor suppressor phenotype. Mutation...
متن کاملHereditary paraganglioma-pheochromocytoma syndromes associated with SDHD and RET mutations.
BACKGROUND Hereditary paraganglioma-pheochromocytoma syndromes (PGL/PCC) are rare tumors arising from neuroendocrine cells. METHODS AND RESULTS The proband, a 59-year-old white man and his 42-year-old elder son had a medical history of bilateral carotid body PGL and both presented for treatment of abdominal PGLs. His 36-year-old daughter had excision of recurrent malignant carotid body PGL an...
متن کاملCarotid body paraganglioma and SDHD mutation in a Greek family.
BACKGROUND Carotid body (CB) is a highly specialized paraganglion originating from the neural crest ectoderm. CB paraganglion can be caused either by a genetic predisposition (hereditary paraganglia) or by chronic hypoxic stimulation. Germline mutations in any of the following genes: SDHD, SDHC, SDHB, PGL2 or other unknown genes, can cause paragangliomas (PGLs). MATERIALS AND METHODS We studi...
متن کاملRole of miR-101 in pheochromocytoma patients with SDHD mutation.
This study aimed to screen the potential diagnostic biomarkers for distinguishing the malignant pheochromocytoma (PCC) from benign PCC. A total of 59 patients with PCC (benign and malignant) were enrolled in this study. The expression level of miRNAs in patients with different kind PCCs (healthy control, benign, malignant, malignant with or without SDHD mutation, adrenal and extra-adrenal) was ...
متن کاملMitochondrial function and content in pheochromocytoma/paraganglioma of succinate dehydrogenase mutation carriers.
To date, the consequences of succinate dehydrogenase (SDH) impairment on overall mitochondrial functions are still obscure. In this study, we evaluated SDH activity and expression and mitochondrial homeostasis in 57 tissue samples of pheochromocytoma (PHEO)/paraganglioma (PGL) obtained from patients genotyped for PHEO/PGL susceptibility genes. The resulted SDH activity and content always decrea...
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ژورنال
عنوان ژورنال: The Journal of Clinical Endocrinology & Metabolism
سال: 2019
ISSN: 0021-972X,1945-7197
DOI: 10.1210/jc.2019-00202