Medullary thyroid carcinoma. Sporadic/familial. When and why screening?;Medullares schilddrusenkarzinom. Sporadisch/familiar. Wann und warum ein screening?

Internist

Volumn 39, Issue 6, 1998, Pages 588-591

  Frilling, A ^a   Liedke, M O ^a  

^a UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

GENETIC SCREENING; HUMAN; INHERITANCE; MUTATION; PHENOTYPE; PROTO ONCOGENE; REVIEW; THYROID MEDULLARY CARCINOMA; CHROMOSOME ABERRATION; CHROMOSOME DISORDER; DOMINANT GENE; GENETICS; MEDULLARY CARCINOMA; NEUROFIBROMATOSIS; NUCLEOTIDE SEQUENCE; SIPPLE SYNDROME; THYROID TUMOR;

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

CARCINOMA, MEDULLARY; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; DNA MUTATIONAL ANALYSIS; DROSOPHILA PROTEINS; GENES, DOMINANT; GENETIC SCREENING; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 0032084245     PISSN: 00209554     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001080050216     Document Type: Review

References (34)

1. Bergholm U, Adami H-O, Telenius-Berg M, Johansson H, Wilander E and the Swedish MTC study group (1990) Incidence of sporadic and familial medullary thyroid carcinoma in Sweden 1959 through 1981. A nationwide study in 126 patients. Acta Oncol 29:9-15
2. Bolino A, Schuffenecker I, Luo Y et al. (1995) RET mutations in exons 13 and 14 of FMTC patients. Oncogene 10:2415-2419
3. Carlson KM, Dou S, Chi D et al. (1994) Single missense mutation in the thyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 91:1579-1583
4. Decker RA, Peacock ML, Borst MJ, Sweet JD, Thompson NW (1995) Progress in genetic screening of multiple endocrine neoplasia type 2A: Is calcitonin testing obsolete? Surgery 118:257-264
5. Donis-Keller H, Dou S, Chi D et al. (1993) Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 2:851-866
6. Eng C, Clayton D, Schuffenecker I et al. (1996) The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: International RET Mutation Consortium analysis. JAMA 276:1575-1579
7. Eng C (1997) Genetic screening in hereditary medullary thyroid carcinoma. Acta Chir Austriaca 1:5-8
8. Eng C, Smith DP, Mulligan LM et al. (1995) A novel point mutation in the thyrosine kinase domain of the RET protooncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 10:509-513
9. Eng C, Smith DP, Mulligan LM et al. (1994) Point mutation within the thyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Hum Mol Genet 3:237-241
10. Frank-Raue K, Höppner W, Frilling A et al. (1996) Mutations of the RET protooncogene in German multiple endocrine neoplasia families: relation between genotype and phenotype. J Clin Endocrinol Metab 81:1780-1783
11. Farndon JR, Leight GS, Dilley WG, Baylin SB, Smallridge RC, Harrison TS, Wells SA (1986) Medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 73:278-281
12. Frilling A, Dralle H, Eng C, Raue F, Broelsch CE (1995) Presymptomatic DNA screening in families with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Surgery 118:1099-1104
13. Frilling A, Röher H-D, Ponder BAJ (1994) Presymptomatic screening for medullary thyroid carcinoma in patients with multiple endocrine neoplasia type 2A. World J Surg 18:577-582
14. Gagel RF, Tashjian AH, Cummings T et al. (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. N Engl J Med 318:478-484
15. Grieco M, Santoro M, Berlingieri MT et al. (1990) PTC is a novel rearrangement form of the RET proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell 60:557-563
16. Hofstra RMW, Landsvater RM, Ceccherini I et al. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 367:375-376
17. Ishizaka Y, Itoh F, Tahira T et al. (1989) Human RET proto-oncogene mapped to chromosome 10q11.2. Oncogene 4:1519-1521
18. Kalinin V, Frilling A (1998) 27 bp deletion in exon 10 as a somatic mutation in sporadic medullary thyroid carcinoma. J Mol Med (im Druck)
19. Lairmore TC, Dou S, Howe JR et al. (1993) A 1.5-megabase yeast artificial chromosome conting from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94, and D10S102) closely linked to the MEN2A locus. Proc Natl Acad Sci USA 90:492-496
20. Lips CJM, Landsvater RM, Höppener JWM et al. (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331:828-835
21. Melvin KEW, Miller HH, Tashjian AHJ (1971) Early diagnosis of medullary carcinoma of the thyroid gland by means of calcitonin assay. J Engl J Med 285:1115-1120
22. Mulligan LM, Eng C, Attie T et al. (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3:2163-2167
23. Mulligan LM, Marsh DJ, Robinson BG et al. for The International RET Mutation Consortium (1995) Genotype-phenotype correlation in MEN 2: report of the International RET Mutation Consortium. J Intern Med 238:343-346
24. Mulligan LM, Kwok JBJ, Healey CS et al. (1993) Germline mutations of the REY proto-oncogene in multiple endocrine neoplasia type 2A. Nature 363:458-460
25. Pacini F, Fontanelli M, Fugazzola L et al. (1994) Routine measurement of serum calcitonin in nodular thyroid disease allows the preoperative diagnosis of unsuspected sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 78:826-829
26. Ponder BAJ, Finer N, Coffey R et al., members of the Cancer Research Campaign Medullary Thyroid Group (1988) Family screening in medullary thyroid carcinoma presenting without a family history. Q J Med 252:299-308
27. Romei C, Elisei R, Pinchera A et al. (1996) Somatic mutations on 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
28. Sizemore GW, Carney JA, Heath H III (1977) Epidemiology of medullary carcinoma of the thyroid gland: a 5-year experience (1971-1976). Surg Clin N Am 57:633-645
29. Schimke RN, Hartmann WN (1965) Familial amyloid-producing medullary thyroid carcinoma and pheochromocytoma. A distinct genetic entity. Ann Intern Med 63:1027-1039
30. Takahashi M, Buma Y, Iwamoto T, Inaguma Y, Ikeda H, Hiai H (1988) Cloning and expression of the RET proto-oncogene encoding a thyrosine kinase with two potential transmembrane domains. Oncogene 3:571-578
31. Tsai M-S, Lediger GA, Khosla S, Gharib H, Thibodeau SN (1994) Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene. J Clin Endocrinol Metab 78:1261-1264
32. Vasen HFA, Nieuwenhuijzen Kruseman AC, Beerkel H et al. (19987) Multiple endocrine neoplasia syndrome type 2.The value of screening and central registration. A study of 15 kindreds in The Netherlands. Am J Med 83:847-852
33. Wells SA Jr, Chi DD, Toshima K et al. (1994) Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 220:237-250
34. Zedenius J, Wallin G, Hamberger B, Nordenskjöld M, Weber G, Larsson C (1994) Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC. Hum Mol Genet 3:1259-1262