Variable expressivity of Familial Medullary Thyroid Carcinoma (FMTC) due to a RET V804M (GTGG→ATG) mutation in two families: Reluctance of gene carriers to accept prophylactic thyroidectomy
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Role of prophylactic thyroidectomy in RET 790 familial medullary thyroid carcinoma.
BACKGROUND We describe a family harboring RET 790 mutation and review the role of prophylactic thyroidectomy for medullary thyroid carcinoma. METHODS We evaluated in detail both clinical and biological follow-up and reviewed literature reports. RESULTS Among 86 family members, 15 of 22 members screened harbored the 790 mutation. Abnormal calcitonin levels were found in 8/15. Total thyroidec...
متن کاملA Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation
Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in Korea. A 33-yr-old man was diagnosed with a 0.7-cm sized thyroid nodule. Laboratory testing revealed serum calcitonin was elevated. The patient underwent total thyroidectomy with central co...
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terms of address as an important linguistics items provide valuable information about the interlocutors, their relationship and their circumstances. this study was done to investigate the change route of persian address terms in the two recent centuries including three historical periods of qajar, pahlavi and after the islamic revolution. data were extracted from a corpus consisting 24 novels w...
15 صفحه اولPheochromocytoma 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
Multiple endocrine neoplasia type 2 (MEN2) is a autosomal dominat inherited tumour-syndrome caused by germline activating mutations of the RET proto-oncogene on chromosome 10. It is clinically characterized by the presence of medullary thyroid carcinoma (MTC), bilateral pheochromocytoma and primary hyperparathyroidism (MEN2A) within a single patient. Three distinct clinical forms have been desc...
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(12):5658-5671. 2. Takai S, Kinoshita S, Tanaka F, Ikeda M, Tanaka N, Kobayashi T. Prominent corneal nerves in patients with multiple endocrine neoplasia type 2A: diagnostic implications. World J Surg. 1992; 16(4):620-624. 3. Kinoshita S, Tanaka F, Ohashi Y, Ikeda M, Takai S. Incidence of prominent corneal nerves in multiple endocrine neoplasia type 2A. Am J Ophthalmol. 1991;111(3):307-311. 4. ...
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ژورنال
عنوان ژورنال: Genetics in Medicine
سال: 1999
ISSN: 1098-3600,1530-0366
DOI: 10.1097/00125817-199901000-00023