Difference in development of medullary thyroid carcinoma among carriers of RET mutations in codons 790 and 791

Clinical Endocrinology

Volumn 69, Issue 2, 2008, Pages 259-263

  Frank Raue, Karin ^a,b   Machens, Andreas ^c   Scheuba, Christian ^d   Niederle, Bruno ^d   Dralle, Henning ^c   Raue, Friedhelm ^b  

^a Endokrinologische Gemeinschaftspraxis   (Germany)

^b Endocrine Practice   (Germany)

^c MARTIN LUTHER UNIVERSITY HALLE WITTENBERG   (Germany)

^d MEDICAL UNIVERSITY OF VIENNA   (Austria)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; PROTEIN RET;

ADULT; ARTICLE; AUSTRIA; CANCER GROWTH; CANCER STAGING; CHEMICAL ANALYSIS; CODON; CONTROLLED STUDY; ENDOCRINE DISEASE; GERMANY; HUMAN; HYPERPARATHYROIDISM; MAJOR CLINICAL STUDY; MUTATION; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; SCREENING; STATISTICAL SIGNIFICANCE; THYROID MEDULLARY CARCINOMA;

ADULT; CALCITONIN; CARCINOMA, MEDULLARY; CODON; FAMILY; FEMALE; GENETIC SCREENING; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MUTATION; PROGNOSIS; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS; YOUNG ADULT;

EID: 47549091970     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2008.03215.x     Document Type: Article

References (18)

1. Brandi, M.L., Gagel, R.F., Angeli, A., Bilezikian, J.P., Beck-Peccoz, P., Bordi, C., Conte-Devolx, B., Falchetti, A., Gheri, R.G., Libroia, A., Lips, C.J.M., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B., Raue, F., Skogseid, B., Tamburano, G., Thakker, R., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, S. Marx, S. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. Journal of Clinical Endocrinology and Metabolism, 86, 5658 5671.
2. Machens, A., Niccoli-Sire, P., Hoegel, J., Frank-Raue, K., van Vroonhoven, T.J., Roeher, H.D., Wahl, R., Lamesch, P., Raue, F., Conte-Devolx, B. Dralle, H. for the European Multiple Endocrine Neoplasia (EUROMEN) Study Group (2003) Early malignant progression of hereditary medullary thyroid cancer. New England Journal of Medicine, 349, 1517 1525.
3. Berndt, I., Reuter, M., Saller, B., Frank-Raue, K., Groth, P., Grussendorf, M., Raue, F., Ritter, M.M. Höppner, W. (1998) A new hot spot for mutations in the RET protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. Journal of Clinical Endocrinology and Metabolism, 83, 770 774.
4. Niccoli-Sire, P., Murat, A., Rohmer, V., Franc, S., Chabrier, G., Baldet, L., Maes, B., Savanger, F., Giraud, S., Bezieau, S., Kottler, M.L., Morange, S. Conte-Devolx, B. the French Calcitonin Tumors Study Group (GETC 2001) Familial medullary thyroid carcinoma with noncysteine RET Mutations: phenotype-genotype relationship in a large series of patients. Journal of Clinical Endocrinology and Metabolism, 86, 3746 3753.
5. Pinna, G., Orgiana, G., Riola, A., Ghiani, M., Lai, M.L., Carcassi, C. Mariotti, S. (2007) RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype. Thyroid, 17, 101 104.
6. Frank-Raue, K., Rondot, S., Schulze, E. Raue, F. (2007) Change in the spectrum of RET mutations diagnosed between 1994 and 2006. Clinical Laboratory, 53, 273 282.
7. Feldmann, G.L., Edmonds, M.W., Ainsworth, P.J., Schuffenecker, I., Lenoir, G.M., Saxe, A.W., Talpos, G.B., Robertson, J., Petrucelli, N. Jackson, C.E. (2000) Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to RET V804M (GTG-ATG) mutation. Surgery, 128, 93 98.
8. Frohnauer, M.K. Decker, R.A. (2000) Update on the MEN 2A c804 RET mutation: is prophylactic thyroidektomy indicated? Surgery, 128, 1052 1058.
9. Gimm, O., Niederle, B.E., Weber, T., Bockhorn, M., Ukkat, J., Brauckhoff, M., Thanh, P.N., Frilling, A., Klar, E., Niederle, B. Dralle, H. (2002) RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A syndrome? Surgery, 132, 952 959.
10. Fitze, G., Schierz, M., Bredow, J., Saeger, H.D., Roesner, D. Schackert, H.K. (2002) Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations. Annals of Surgery, 236, 570 575.
11. Frank-Raue, K., Rondot, S., Höppner, W., Goretzki, P., Raue, F. Meng, W. (2005) Coincidence of multiple endocrine neoplasia type 1 and 2: mutations in the RET proto-oncogene and MEN 1 tumor suppessor gene in a family presenting with recurrent primary hyperparathyroidism. Journal of Clinical Endocrinology and Metabolism, 90, 4063 4067.
12. Vierhapper, H., Rondot, S., Schulze, E., Wagner, L., Hanslik, S., Niederle, B., Bieglmayer, C., Kaserer, K. Baumgartner-Parzer, S. (2005) Primary hyperparathyroidism as the leading symptom in a patient with a Y791F RET mutation. Thyroid, 15, 1303 1308.
13. Vestergaard, P., Vestergaard, E.M., Brockstedt, H. Christiansen, P. (2007) Codon Y791F mutation in a large kindred: is prophylactic thyroidectomy always indicated? World Journal of Surgery, 31, 996 1001.
14. Vierhapper, H., Bieglmayer, C., Heinze, G. Baumgartner-Parzer, S. (2004) Frequency of RET proto-oncogene mutations in patients with normal and with moderately elevated pentagastrin-stimulated serum concentrations of calcitonin. Thyroid, 14, 580 583.
15. Frank-Raue, K., Buhr, H., Dralle, H., Klar, E., Senninger, N., Weber, T., Rondot, S., Höppner, W. Raue, F. (2006) Long-term outcome in 46 gene carriers of hereditary medullary thyroid carcinoma after prophylactic thyroidectomy: impact of individual RET genotype. European Journal of Endocrinology, 155, 229 236.
16. Frank-Raue, K., Heimbach, C., Rondot, S., Usadel, K.H., Meng, W., Varma, C., Fuchs-Hammoser, R., Höppner, W., Schulze, E. Raue, F. (2003) Hereditäres medulläres Schilddrüsenkarzinom-Genotyp- Phänotyp-Charakterisierung. Deutsche Medizinische Wochenschrift, 128, 1998 2000.
17. Vierhapper, H., Niederle, B., Bieglmayer, C., Kaserer, K. Baumgartner-Parzer, S. (2005) Early diagnosis and curative therapy of medullary thyroid carcinoma by routine measurement of serum calcitonin in patients with thyroid disorders. Thyroid, 15, 1267 1272.
18. Costante, G., Meringolo, D., Durante, C., Bianchi, D., Nocera, M., Tumino, S., Crocetti, U., Attard, M., Maranghi, M., Torlontano, M. Filetti, S. (2007) Predictive value of serum calcitonin levels for preoperative diagnosis of medullary thyroid carcinoma in a cohort of 5817 consecutive patients with thyroid nodules. Journal of Clinical Endocrinology and Metabolism, 92, 450 455.