Bilateral adrenal pheochromocytoma with a germline L790F mutation in the RET oncogene
نویسندگان
چکیده
About ten percent of pheochromocytomas are associated with familial syndrome. Hereditary pheochromocytoma has characteristics of early onset, multifocality and bilaterality. We experienced a case of 44-year-old man with bilateral pheochromocytoma without evidence of medullary thyroid cancer. Genetic test detected a L790F germline mutation of RET oncogene. The author found a necessity for genetic tests in cases of young-age, bilateral pheochromocytoma.
منابع مشابه
Candidate gene mutation analysis in bilateral adrenal pheochromocytoma and sympathetic paraganglioma.
Pheochromocytomas (PCCs) are rare tumors that arise from chromaffin tissue in the adrenal medulla, but can also occur in the abdomen outside the adrenals and are then called sympathetic paragangliomas (sPGLs). According to the literature, between 15 and 25% of apparently sporadic adrenal PCC and sPGL are caused by germline mutations in RET, von Hippel-Lindau disease (VHL), succinate dehydrogena...
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متن کاملPheochromocytoma Primary hyperparathyroidism Ganglioneuromarosis RET proto-oncogene Tyrosine kinase inhibitors Abbreviations MEN Multiple endocrine neoplasia MTC Medullary thyroid carcinoma Ct Calcitonin Pheo Pheochromcytoma HPT Primary hyperparathyroidism FMTC Familial medullary thyroid carcinoma RET gene Rearranged during transfection gene
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Pheochromocytomas and paragangliomas are neuroendocrine tumors developed in the adrenal medulla and in the extra-adrenal thoraco-abdominal sympathetic and parasympathetic paraganglia, respectively. Although clinical diagnosis of these tumors is infrequent during childhood, there have been reports of pediatric patients either carrying germline alterations in one of ten major pheochromocytoma/par...
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عنوان ژورنال:
دوره 82 شماره
صفحات -
تاریخ انتشار 2012