Multiple endocrine neoplasia type 2A with the identical somatic mutation in medullary thyroid carcinoma and pheochromocytoma without germline mutation at the corresponding site in the RET proto-oncogene

Internal Medicine

Volumn 38, Issue 2, 1999, Pages 145-149

  Akama, Hiroyoshi ^a   Noshiro, Takao ^a,b   Kimura, Noriko ^a   Shimizu, Kazumasa ^a   Watanabe, Toshiya ^a   Shibukawa, Satoru ^a   Nakai, Shigeyasu ^a   Miura, Wakako ^a   Ito, Sadayoshi ^a   Miura, Yukio ^b  

^a TOHOKU UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOHOKU UNIVERSITY   (Japan)

Author keywords

Hypertension; Multiple endocrine neoplasia (MEN) type 2A; Sipple's syndrome

Indexed keywords

DNA; DROSOPHILA PROTEIN; ONCOPROTEIN; PROTEIN RET; PROTEIN TYROSINE KINASE; RET ONCOGENE PROTEIN, DROSOPHILA;

ADRENAL TUMOR; ADRENALECTOMY; ADULT; ARTICLE; CASE REPORT; CODON; COMPUTER ASSISTED TOMOGRAPHY; EXON; FEMALE; FOLLOW UP; GENETICS; HUMAN; MEDULLARY CARCINOMA; MUTATION; PHEOCHROMOCYTOMA; SIPPLE SYNDROME; THYROID TUMOR; THYROIDECTOMY;

ADRENAL GLAND NEOPLASMS; ADRENALECTOMY; ADULT; CARCINOMA, MEDULLARY; CODON; DNA, NEOPLASM; DROSOPHILA PROTEINS; EXONS; FEMALE; FOLLOW-UP STUDIES; GERM-LINE MUTATION; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS; THYROIDECTOMY; TOMOGRAPHY, X-RAY COMPUTED;

EID: 0033069769     PISSN: 09182918     EISSN: None     Source Type: Journal    
DOI: 10.2169/internalmedicine.38.145     Document Type: Article

References (28)

1. Mulligan LM, Kwok JBJ, Healey CS, et al. Germline mutations of the ret protooncogene in multiple endocrine neoplasia type 2A (MEN 2A). Nature 363: 458-460, 1993.
2. Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet 6: 70-74, 1994.
3. Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med 335: 943-951, 1996.
4. Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276: 1575-1579, 1996.
5. Frank-Raue K, Höppner W, Frilling A, et al. Mutation of the RET proto-oncogene in German multiple endocrine neoplasia families: Relation between genotype and phenotype. J Clin Endocrinol Metab 81: 1780-1783, 1996.
6. Neumann HPH, Eng C, Mulligan LM, et al. Consequences of direct genetic testing for germline mutations in the clinical management of families with multiple endocrine neoplasia, type II. JAMA 274: 1149-1151, 1995.
7. Decker RA, Peacock ML, Borst MJ, Sweet JD, Thompson NW. Progress in genetic screening of multiple endocrine neoplasia type 2A: Is calcitonin testing obsolete? Surgery 118: 257-263, 1995.
8. Frank-Raue K, Kratt T, Höppner W, Buhr H, Ziegler R, Raue F. Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. Eur J Endocrinol 135: 222-225, 1996.
9. Ledger GA, Khosla S, Lindor NM, Thibodeau SN, Gharib H. Genetic testing in the diagnosis and management of multiple endocrine neoplasia type II. Ann Intern Med 122: 118-124, 1995.
10. Lips CJM, Landsvater RM, Höppener JWM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331: 828-835, 1994.
11. Wells SA Jr, Chi DD, Toshima K, et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 220: 237-247, 1994.
12. Kimura T, Yoshimoto K, Yokogoshi Y, Saito S. Mutations in the cysteine-rich region of the RET proto-oncogene in patients diagnosed as having sporadic medullary thyroid carcinoma. Endocr J 42: 517-525, 1995.
13. Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet 3: 237-241, 1994.
14. Hofstra RMW, Stelwagen T, Stulp RP, et al. Extensive mutation scanning of ret in sporadic medullary thyroid carcinoma and of RET and VHL in sporadic pheochromocytoma reveals involvement of these genes in only a minority of cases. J Clin Endocrinol Metab 81: 2881-2884, 1996.
15. Landsvater RM, de Wit MJ, Zewald RA, et al. Somatic mutations of the RET proto-oncogene are not required for tumor development in multiple endocrine neoplasia type 2 (MEN 2) gene carriers. Cancer Res 56: 4853-4855, 1996.
16. Marsh DJ, Andrew SD, Eng C, et al. Germline and somatic mutations in an oncogene: RET mutations in inherited medullary thyroid carcinoma. Cancer Res 56: 1241-1243, 1996.
17. Romei C, Elisei R, Pinchera A, et al. Somatic mutations of the RET proto-oncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J Clin Endocrinol Metab 81: 1619-1622, 1996.
18. Wohllk N, Cote GJ, Bugalho MMJ, et al. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 81: 3740-3745, 1996.
19. Beldjord C, Desclaux-Arramond F, Raffin-Sanson M, et al. The RET proto-oncogene in sporadic pheochromocytomas: Frequent MEN 2-like mutations and new molecular defects. J Clin Endocrinol Metab 80: 2063-2068, 1995.
20. Lindor NM, Honchel R, Khosla S, Thibodeau SN. Mutations in the RET proto-oncogene in sporadic pheochromocytomas. J Clin Endocrinol Metab 80: 627-629, 1995.
21. Yoshimoto K, Tanaka C, Hamaguchi S, et al. Tumor-specific mutations in the tyrosine kinase domain of the RET proto-oncogene in pheochromocytomas of sporadic type. Endocr J 42: 265-270, 1995.
22. Gagel RF. RET proto-oncogene mutations and endocrine neoplasia: a story intertwined with neural crest differentiation. Endocrinology 137: 1509-1511, 1996.
23. Berndt I, Reuter M, Saller B, et al. A new hot spot for mutations in the RET proto-oncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab 83: 770-774, 1998.
24. Durbec P, Marcos-Gutierrez CV, Kilkenny C, et al. GDNF signalling through the Ret receptor tyrosine kinase. Nature 381: 789-793, 1996.
25. Jing S, Wen D, Yu Y, et al. GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-α, a novel receptor for GDNF. Cell 85: 1113-1124, 1996.
26. Treanor JJS, Goodman L, de Sauvage F, et al. Characterization of a multicomponent receptor for GDNF. Nature 382: 80-83, 1996.
27. Marsh DJ, Zheng Z, Arnold A, et al. Mutation analysis of glial cell line-derived neurotrophic factor, a ligand for an RET/coreceptor complex, in multiple endocrine neoplasia type 2A and sporadic neuroendocrine tumors. J Clin Endocrinol Metab 82: 3025-3028, 1997.
28. Casanova S, Rosenberg-Bourgin M, Farkas D, et al. Pheochromocytoma in multiple endocrine neoplasia type 2A: survey of 100 cases. Clin Endocrinol 38: 531-537, 1993.