Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma

Clinical Endocrinology

Volumn 63, Issue 6, 2005, Pages 676-682

  Kinlaw, William B ^a   Scott, Sarah M ^a   Maue, Robert A ^a   Memoli, Vincent A ^a   Harris, Robert D ^a   Daniels, Gilbert H ^b   Porter, Donna M ^a   Belloni, Dorothy R ^a   Spooner, Edward T ^a   Ernesti, Manfred M ^c   Noll, Walter W ^a  

^a DARTMOUTH MEDICAL SCHOOL   (United States)

^b MASSACHUSETTS GENERAL HOSPITAL   (United States)

^c NONE

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; CALCIUM; METADRENALIN; PENTAGASTRIN; PROTEIN RET;

ADULT; AMINO ACID SUBSTITUTION; ANAMNESIS; ARTICLE; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; CODON; ENDOCRINE TUMOR; EVALUATION; FAMILY; FEMALE; GENE MUTATION; GENETIC SCREENING; GENETIC TRANSFECTION; HUMAN; PHENOTYPE; PHEOCHROMOCYTOMA; PHYSICAL EXAMINATION; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; URINALYSIS; WESTERN BLOTTING; WILD TYPE;

ADOLESCENT; ADULT; CALCITONIN; CALCIUM; CARCINOMA, MEDULLARY; CATECHOLAMINES; CHILD; CODON; FEMALE; HUMANS; MALE; METANEPHRINE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PEDIGREE; PENTAGASTRIN; PHEOCHROMOCYTOMA; POINT MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTO-ONCOGENE PROTEINS C-RET; SEQUENCE ANALYSIS, DNA; THYROID GLAND; THYROID NEOPLASMS; VANILMANDELIC ACID;

EID: 28844469325     PISSN: 03000664     EISSN: 13652265     Source Type: Journal    
DOI: 10.1111/j.1365-2265.2005.02400.x     Document Type: Article

References (30)

1. Steiner, A.L., Goodman, A.D. & Powers, S.R. (1968) Study of a kindred with pheochromocytoma, medullary carcinoma, hyperparathyroidism and Cushing's disease; multiple endocrine neoplasia, type 2. Medicine (Baltimore), 47, 371-409.
2. Melvin, K.E.W., Tashjian, A.H. Jr & Miller, H.H. (1972) Studies in familial (medullary) thyroid carcinoma. Recent Progress in Hormone Research, 28, 399-470.
3. Keiser, H.R., Beaven, M.A., Doppman, J., Wells, S.A. Jr & Buja, L.M. (1973) Sipple's syndrome: medullary thyroid carcinoma, pheochromocytoma, and parathyroid disease. Annals of Internal Medicine, 78, 561-579.
4. Howe, J.R., Norton, J.A. & Wells, S.A. Jr (1993) Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia 2A: results of long-term follow-up. Surgery, 114, 1070-1077.
5. Gagel, R.F., Melvin, K.E.W., Tashjian, A.H. Jr, Miller, H.H., Feldman, Z.T., Wolfe, H.J., DeLellis, R.A., Cerviskinner, S. & Reichlin, S. (1975) Natural history of the familial medullary thyroid carcinoma-pheochromocytoma syndrome and the identification of preneoplastic stages by screening studies: a five-year report. Transactions of the Association of American Physicians, 88, 177-191.
6. Gagel, R.F., Tashjian, A.H. Jr, Cummings, T., Papathanasopoulos, N. & Reichlin, S. (1987) Impact of prospective screening for multiple endocrine neoplasia type 2. Henry Ford Hospital Medical Journal, 35, 94-98.
7. Ponder, B.A., Ponder, M.A., Coffey, R., Pembrey, M.E., Gagel, R.F., Telenius-Berg, M., Semple, P. & Easton, D.F. (1988) Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet, 1, 397-401.
8. Mulligan, L.M., Eng, C., Attie, T., Lyonnet, S., Marsh, D.J., Hyland, V.J., Robinson, B.G., Frilling, A., Verellen-Dumoulin, C. & Safar, A. (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Human Molecular Genetics, 3, 2163-2167.
9. Donis-Keller, H., Dou, S., Chi, D., Carlson, K.M., Toshima, K., Lairmore, T.C., Howe, J.R., Moley, J.F., Goodfellow, P. & Wells, S.A. Jr (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics, 2, 851-856.
10. Mulligan, L.M., Kwok, J.B., Healey, C.S., Elsdon, M.J., Eng, C., Gardner, E., Love, D.R., Mole, S.E., Moore, J.K. & Papi, L. (1993) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2a. Nature, 363, 458-460.
11. Eng, C. (1996) The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. New England Journal of Medicine, 335, 943-951.
12. Linehan, W.M., Farrell, R.E., Cooper, C.W. & Wells, S.A. (1977) Analysis of pentagastrin and calcium as thyrocalcitonin secretagogues in the early diagnosis of medullary carcinoma of the thyroid gland. Surgical Forum, 28, 110-114.
13. Iacobone, M., Niccoli-Sire, P., Sebag, F., DeMicco, C. & Henry, J.-F. (2002) Can sporadic medullary thyroid carcinoma be biochemically predicted? Prospective analysis of 66 operated patients with elevated serum calcitonin levels. World Journal of Surgery, 26, 886-890.
14. Myers, S., Eng, C., Ponder, B. & Mulligan, L. (1995) Characterization of RET proto-oncogene 3′ splicing variants and polyadenylation sites: a novel C-terminus for RET. Oncogene, 11, 2039-2045.
15. Neumann, H.P., Bausch, B., McWhinney, S.R., Bender, B.U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., Januszewicz, A., Eng, C., Smith, W.M., Munk, R., Glaesker, S., Apel, T.W., Treier, M., Reineke, M., Walz, M.K., Hoang-Vu, C., Brauckhoff, M., Klein-Franke, A., Klose, P., Schmidt, H., Maier-Woelfle, M., Peczkwska, M., Szmigielski, C., Eng, C. & the Freiburg-Warsaw-Columbus Pheochromocytoma Study Group. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. New England Journal of Medicine, 346, 1459-1466.
16. Asai, N., Iwashita, T., Matsuyama, M. & Takahashi, M. (1995) Mechanism of activation of the RET proto-oncogene by multiple endocrine neoplasia 2A point mutations. Molecular and Cellular Biology, 15, 1613-1619.
17. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D.P., Dathan, N.A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B. & Kraus, M.H. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and 2B. Science, 267, 381-383.
18. 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., Lombardi, G., Mannelli, M., Pacini, F., Ponder, B.A., Raue, F., Skogseid, B., Tamburrano, G., Thakker, R.V., Thompson, N.W., Tomassetti, P., Tonelli, F., Wells, S.A. Jr & Marx, S.J. (2001) Consensus guidelines for diagnosis and therapy of MEN type I and type 2. Journal of Clinical Endocrinology and Metabolism, 86, 5658-5671.
19. Yip, L., Cote, G., Shapiro, S., Ayers, G., Herzog, C., Sellin, R., Sherman, S.I., Gagel, R.F., Lee, J.E. & Evans, D.B. (2003) Multiple endocrine neoplasia type 2. Evaluation of the genotype-phenotype relationship. Archives of Surgery, 138, 409-415.
20. Gagel, R.F. & Marx, S. (2003) Multiple endocrine neoplasia. In: Williams, R.H., Larsen, P.R., Kronenberg, H.M., Melmed, S. & Polonsky, K.S., eds., Williams Textbook of Endocrinology, 10th edn. Elsevier, Philadelphia, pp. 1717-1753.
21. Decker, R., Peakock, M.L. & Watson, P. (1998) Hirschsprung disease in MEN 2A: increased spectrum of RET exon 19 genotypes and strong genotype-phenotype correlation. Human Molecular Genetics, 7, 128-134.
22. Simon, S., Pavel, M., Hensen, J., Berg, J., Hummer, H.P. & Carbon, R. (2002) Multiple endocrine neoplasia 2A syndrome: surgical management. Journal of Pediatric Surgery, 37, 897-900.
23. 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 2A syndrome? Surgery, 132, 952-959.
24. Brauer, V.F., Scholz, G.H., Neumann, S., Lohmann, T., Paschke, R. & Koch, C.A. (2004) RET germline mutation in codon 791 in a family representing 3 generations from age 5 to age 70 years: should thyroidectomy be performed? Endocrine Practice, 10, 5-9.
25. Lindskog, S., Nilsson, O., Jansson, S., Nilsson, B., Illerskog, A.-C., Ysander, L., Ahlman, H. & Tisell, L.E. (2004) Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618. British Journal of Surgery, 91, 713-718.
26. Carlomango, F., Salvatore, G., Cirafici, A.M., DeVita, G., Melillo, R.M., deFranciscis, V., Billaud, M., Fusco, A. & Santoro, M. (1997) The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. Cancer Research, 57, 391-395.
27. Klein, I., Esik, O., Homolya, V. & Varadi, A. (2001) Molecular genetic diagnostic program of multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma syndromes in Hungary. Journal of Endocrinology, 170, 661-666.
28. Huang, S.C., Koch, C.A., Vortmeyer, A.O., Pack, S., Lichtenauer, U., Mannan, P., Lubensky, I., Chrousos, G., Gagel, R.F., Pacack, K. & Zhuang, Z. (2000) Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Research, 60, 6223-6226.
29. Koch, C.A., Huang, S.C., Moley, J., Azumi, N., Chrousos, G., Gagel, R.F., Zhuang, Z., Pacak, K. & Vortmeyer, A.O. (2001) Allelic imbalance of the mutant and wild-type RET allele in MEN 2A-associated medullary thyroid carcinoma. Oncogene, 20, 7809-7811.
30. Huang, S.C., Torres-Cruz, J., Pack, S., Koch, C.A., Vortmeyer, A.O., Mannan, P., Lubesnsky, I., Gagel, R.F. & Zhuang, Z. (2003) Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma. Journal of Clinical Endocrinology and Metabolism, 88, 459-463.