Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation

Surgery

Volumn 136, Issue 5, 2004, Pages 1083-1087

  Machens, Andreas ^a,b   Schneyer, Ulrich ^a   Holzhausen, Hans Jürgen ^a   Raue, Friedhelm ^a   Dralle, Henning ^a  

^a Vasc Surg Int Med Div E   (Germany)

^b MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; FEMALE; GENE MUTATION; GENOTYPE; HUMAN; MAJOR CLINICAL STUDY; MALE; PHENOTYPE; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ARGININE; BRAIN STEM NEOPLASMS; CYSTEINE; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; PEDIGREE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 7544238757     PISSN: 00396060     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.surg.2004.04.034     Document Type: Article

References (19)

1. Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med. 335:1996;943-951
2. Takahashi M., Ritz J., Cooper G.M. Activation of a novel human transforming gene, ret, by DNA rearrangement. Cell. 42:1985;581-588
3. Machens A., Gimm O., Hinze R., Höppner W., Boehm B.O., Dralle H. Genotype - phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J Clin Endocrinol Metab. 86:2001;1104-1109
4. Niccoli-Sire P., Murat A., Rohmer V., Franc S., Chabrier G., Baldet L., et al. Familial medullary thyroid carcinoma with noncysteine RET mutations: phenotype-genotype relationship in a large series of patients. J Clin Endocrinol Metab. 86:2001;3746-3753
5. Machens A., Niccoli-Sire-P Högel J., Frank-Raue K., van Vroonhoven T.J., Röher H.D., et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 349:2003;1517-1525
6. Machens A., Holzhausen H.J., Thanh P.N., Dralle H. Malignant progression from C-cell hyperplasia to medullary thyroid carcinoma in 167 carriers of RET germline mutations. Surgery. 134:2003;425-431
7. Brandi M.L., Gagel R.F., Angeli A., Bilezikian J.P., Beck-Peccoz P., Bordi C., et al. Consensus guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 86:2001;5658-5671
8. Russo A., Zanna I., Tubiolo C., Migliavacca M., Bazan V., Latteri M.A., et al. Hereditary common cancers: molecular and clinical genetics. Anticancer Res. 20:2000;4841-4851
9. Komminoth P., Kunz E.K., Matias-Guiu X., Hiort O., Christiansen G., Colomer A., et al. Analysis of RET proto-oncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer. 76:1995;479-489
10. Kitamura Y., Goodfellow P.J., Shimizu K., Nagahama M., Ito K., Kitagawa W., et al. Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): Mutation analysis in Japanese patients with MTC. Oncogene. 14:1997;3103-3106
11. Hinze R., Holzhausen H.J., Gimm O., Dralle H., Rath F.W. Primary hereditary medullary thyroid carcinoma - C-cell morphology and correlation with preoperative calcitonin levels. Virchows Arch. 433:1998;203-208
12. Wolfe H.J., Melvin K.E.W., Cervi-Skinner S.J., Al Saadi A.A., Juliar J.F., Jackson C.E., et al. C-cell hyperplasia preceding medullary thyroid carcinoma. N Engl J Med. 289:1973;437-441
13. DeLellis R.A. C-cell hyperplasia: a current perspective. Adv Anat Pathol. 4:1997;17-22
14. Fleming I.D., Cooper J.S., Henson D.E., Hutter R.V.P., Kennedy B.J., Murphy G.P., et al. AJCC Cancer Staging Manual. 1997;American Joint Committee on Cancer, Philadelphia
15. Sobin L.H., Wittekind C. TNM Classification of Malignant Tumors. 5th ed. :1997;Wiley-Liss, New York
16. Hennekens C.H., Buring J.E., Mayrent S.L. Epidemiology in Medicine. 1987;Little, Brown, and Company, Boston/Toronto
17. Marsh D.J., Mulligan L.M., Eng C. RET proto-oncogene mutations in multiple endocrine neoplasia type 2 and medullary thyroid carcinoma. Horm Res. 47:1997;168-178
18. Ito S., Iwashita T., Asai N., Murakami H., Iwata Y., Sobue G., et al. Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res. 57:1997;2870-2872
19. Santoro M., Carlomagno F., Romano A., Bottaro D.P., Dathan N.A., Grieco M., et al. Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Science. 267:1995;381-383