RET Genetic Screening in Patients with Medullary Thyroid Cancer and Their Relatives: Experience with 807 Individuals at One Center
作者： Rossella Elisei , Cristina Romei , Barbara Cosci , Laura Agate , Valeria Bottici
DOI: 10.1210/JC.2007-1005
关键词:
摘要: Background: Germline RET gene mutations are causative of multiple endocrine neoplasia (MEN) 2 and may be identified by genetic screening. Three different syndromes distinguished: MEN 2A, when medullary thyroid carcinoma (MTC) is associated with pheochromocytoma and/or parathyroid adenomas; 2B, accompanied a marfanoid habitus pheochromocytoma; familial (FMTC), only MTC present. Patients Methods: During the last 13 yr, we performed screening in 807 subjects: 481 apparently sporadic MTC, 37 clinical evidence 2, 289 relatives. Genomic DNA was extracted from blood all subjects, exons 10, 11, 13, 14, 15, 16 were analyzed direct sequencing after PCR. Results: We unexpectedly discovered germline mutation 35 (7.3%) patients. A also found 36 patients hereditary MTC. The distribution ...
oup.com
core.ac.uk
endojournals.org
endocrine.org 参考文章(22)
Aldo Pinchera, Rossella Elisei, Medullary Thyroid Cancer: Diagnosis and Management Springer London. pp. 255- 279 ,(2006) , 10.1007/1-84628-013-3_21
M. Wiench, Z. Wygoda, E. Gubala, J. Wloch, K. Lisowska, J. Krassowski, D. Scieglinska, A. Fiszer-Kierzkowska, D. Lange, D. Kula, M. Zeman, J. Roskosz, A. Kukulska, Z. Krawczyk, B. Jarzab, Estimation of Risk of Inherited Medullary Thyroid Carcinoma in Apparent Sporadic Patients Journal of Clinical Oncology. ,vol. 19, pp. 1374- 1380 ,(2001) , 10.1200/JCO.2001.19.5.1374
HARRY R. KEISER, Sipple's Syndrome: Medullary Thyroid Carcinoma, Pheochromocytoma, and Parathyroid Disease Annals of Internal Medicine. ,vol. 78, pp. 561- 579 ,(1973) , 10.7326/0003-4819-78-4-561
A. C. Nieuwenhuijzen Kruseman, S. Schifter, H. H. Hansen, H. Telenius, M. Telenius-Berg, B. A. J. Ponder, C. G. P. Mathew, K. S. Chin, D. F. Easton, K. Thorpe, C. Carter, G. I. Liou, S.-L. Fong, C. D. B. Bridges, H. Haak, A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature. ,vol. 328, pp. 527- 528 ,(1987) , 10.1038/328527A0
W.J. Cunliffe, P. Hudgson, J.J. Fulthorpe, M.M. Black, R. Hall, I.D.A. Johnston, Sam Shuster, A calcitonin-secreting medullary thyroid carcinoma associated with mucosal neuromas, marfanoid features, myopathy and pigmentation The American Journal of Medicine. ,vol. 48, pp. 120- 126 ,(1970) , 10.1016/0002-9343(70)90106-3
Charis Eng, Darrin P. SmIth, Lois M. MullIgan, Maria A. Nagal, Catherine S. Healey, Margaret A. Ponder, Emily Gardner, Georg F.W. Scheumann, CharIes E. Jackson, Alan Tunnacllffe, Bruce A.J. Ponder, Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours Human Molecular Genetics. ,vol. 3, pp. 237- 241 ,(1994) , 10.1093/HMG/3.2.237
K. E. Melvin, A. H. Tashjian, The syndrome of excessive thyrocalcitonin produced by medullary carcinoma of the thyroid. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 59, pp. 1216- 1222 ,(1968) , 10.1073/PNAS.59.4.1216
Lois M. Mulligan, John B. J. Kwok, Catherine S. Healey, Mark J. Elsdon, Charis Eng, Emily Gardner, Donald R. Love, Sara E. Mole, Julie K. Moore, Laura Papi, Margaret A. Ponder, Hakan Telenius, Alan Tunnacliffe, Bruce A. J. Ponder, Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A Nature. ,vol. 363, pp. 458- 460 ,(1993) , 10.1038/363458A0
Rossella Elisei, Barbara Cosci, Cristina Romei, Valeria Bottici, Mariangela Sculli, Riccardo Lari, Roberto Barale, Furio Pacini, Aldo Pinchera, RET Exon 11 (G691S) Polymorphism Is Significantly More Frequent in Sporadic Medullary Thyroid Carcinoma Than in the General Population The Journal of Clinical Endocrinology and Metabolism. ,vol. 89, pp. 3579- 3584 ,(2004) , 10.1210/JC.2003-031898
Maria João Bugalho, Rita Domingues, Jorge Rosa Santos, Ana Luísa Catarino, Luís Sobrinho, Mutation analysis of the RET proto-oncogene and early thyroidectomy: results of a Portuguese cancer centre. Surgery. ,vol. 141, pp. 90- 95 ,(2007) , 10.1016/J.SURG.2006.03.025