Spectrum and Prevalence of FP/TMEM127 Gene Mutations in Pheochromocytomas and Paragangliomas
نویسندگان
چکیده
منابع مشابه
Hypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PG...
متن کاملHypoxia Pathway Mutations in Pheochromocytomas and Paragangliomas.
Pheochromocytomas (PCC) and sympathetic paragangliomas (PGL) are rare neuroendocrine tumors, which derive from chromaffin cells occurring in the adrenal medulla and extra-adrenal sympathetic paraganglia. PCC and PGL are often benign, catecholamine-producing tumors, responsible for a myriad of symptoms that may be potentially hazardous to the patient. In contrast, nonsecreting parasympathetic PG...
متن کاملPheochromocytomas and secreting paragangliomas
Catecholamine-producing tumors may arise in the adrenal medulla (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas). Their prevalence is about 0.1% in patients with hypertension and 4% in patients with a fortuitously discovered adrenal mass. An increase in the production of catecholamines causes symptoms (mainly headaches, palpitations and excess sweating) and sig...
متن کاملUpdate on Paragangliomas and Pheochromocytomas.
Genomic studies in the recent decades lead to the identification of new genetic mutations that have been shown to play detrimental roles in the formation of pheochromocytoma or paraganglioma. The majority of these genetic mutations detected affect two major cellular pathways - pseudo hypoxic pathway and kinase signalling pathway. Genetic mutations also resulted in syndromes related to paragangl...
متن کاملNovel hereditary forms of pheochromocytomas and paragangliomas.
Pheochromocytomas and paragangliomas are catecholamine-secreting tumors of neural crest origin that arise from the adrenal medulla or extra-adrenal sympathetic paraganglia, respectively. Over the last decade, the extensive genetic heterogeneity of these tumors came to light with the identification of multiple susceptibility genes. These mutations account for at least one-third of pheochromocyto...
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ژورنال
عنوان ژورنال: JAMA
سال: 2010
ISSN: 0098-7484
DOI: 10.1001/jama.2010.1830