Genetic testing and early thyroidectomy for inherited medullary thyroid carcinoma

Annals of Medicine

Volumn 28, Issue 5, 1996, Pages 401-406

  Lairmore, Terry C ^a   Frisella, Margaret M ^a   Wells Jr , Samuel A ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Genetic testing; Medullary thyroid carcinoma; Multiple endocrine neoplasia type 2; RET proto oncogene

Indexed keywords

ARTICLE; DNA DETERMINATION; GENE MUTATION; GENETICS; HUMAN; MAJOR CLINICAL STUDY; MULTIPLE ENDOCRINE NEOPLASIA; PRIORITY JOURNAL; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

EID: 0029823537     PISSN: 07853890     EISSN: None     Source Type: Journal    
DOI: 10.3109/07853899608999099     Document Type: Article

References (39)

1. Sipple H. The association of pheochromocytoma with carcinoma of the thyroid gland. Am J Med 1961; 31: 163-6.
2. Steiner AL, Goodman AD, Powers SR. Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: multiple endocrine neoplasia type 2. Medicine 1968; 47: 371-409.
3. Howe JR, Norton JA, Wells SA Jr. Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery 1993; 114: 1070-7.
4. Williams ED, Pollack DJ. Multiple mucosal neuromata with endocrine tumours: a syndrome allied to von Recklinghausen's disease. J Pathol Bacteriol 1966; 91: 71-80.
5. Schimke RN, Hartmann WH, Prout TE, Rimoin DL. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas. N Engl J Med 1968; 279: 1-7.
6. Farndon JR, Leight GS, Dilley WG, et al. Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br J Surg 1986; 73: 278-81.
7. Steinfeld AD. The role of radiation therapy in medullary carcinoma of the thyroid. Radiology 1977; 123: 745-6.
8. Samaan N, Schultz P, Hickey R. Medullary thyroid carcinoma: prognosis of familial vs. nonfamilial disease and the results of radiotherapy. Horm Metab Res 1989; 21: 20.
9. Husain M, Alsever RN, Lock JP, George WF, Katz FH. Failure of medullary thyroid carcinoma to respond to doxorubicin therapy. Horm Res 1978; 9: 22-5.
10. Tashjian AH Jr., Howland BG, Melvin KEW, Hill CS Jr. Immunoassay of human calcitonin: clinical measurement, relation to serum calcium and studies in patients with medullary carcinoma. N Engl J Med 1970; 283: 890-5.
11. Melvin KEW, Miller HH, Tashjian AH Jr. Early diagnosis of medullary carcinoma of the thyroid gland by means of calcitonin assay. N Engl J Med 1971; 285: 1115-20.
12. Wells SA Jr, Baylin SB, Linehan WM, Farrell RE, Cox EB, Cooper CW. Provocative agents and the diagnosis of medullary carcinoma of the thyroid gland. Ann Surg 1978; 188: 139-41.
13. Mathew CGP, Chin KS, Easton DF, et al. A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 1987; 328: 527-8.
14. Simpson NE, Kidd KK, Goodfellow PJ, et al. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by genetic linkage. Nature 1987; 328: 528-30.
15. Norum RA, Lafreniere RG, O'Neal LW, et al. Linkage of the multiple endocrine neoplasia type 2B gene (MEN2B) to chromosome 10 markers linked to MEN2A. Genomics 1990; 8: 313-7.
16. Lairmore TC, Howe JR, Korte JA, et al. Familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2B map to the same region of chromosome 10 as multiple endocrine neoplasia type 2A. Genomics 1991; 9: 181-92.
17. Nakamura Y, Mathew CGP, Sobol H, et al. Linked markers flanking the gene for multiple endocrine neoplasia type 2A. Genomics 1989; 5: 199-203.
18. Goodfellow PJ, Myers S, Anderson LL, Brooks-Wilson AR, Simpson NE. A new DNA marker (D10S94) very tightly linked to the multiple endocrine neoplasia type 2A (MEN2A) locus. Am J Hum Genet 1990; 47: 952-6.
19. Tokino T, Takahashi E-I, Mori M, et al. Isolation and mapping of 62 new RFLP markers on human chromosome 11. Am J Hum Genet 1991; 48: 258-68.
20. Tokino T, Takashi I, Tanigami A, Takiguchi S, Nakamura Y. Physical mapping of a 950-kb region surrounding a locus (D10S102) tightly linked to the MEN2A gene. Genomics 1992; 12: 394-400.
21. Brooks-Wilson AR, Smailus DE, Goodfellow PJ. A cluster of CpG islands at D10S94, near the locus responsible for multiple endocrine neoplasia type 2A (MEN2A). Genomics 1992; 13: 339-43.
22. Lairmore TC, Dou S, Howe JR, et al. A 1.5-megabase yeast artificial chromosome contig from human chromosome 10q11.2 connecting three genetic loci (RET, D10S94 and D10S102) closely linked to the MEN2A locus. Proc Natl Acad Sci USA 1993; 90: 492-6.
23. Brooks-Wilson AR, Lichter JB, Ward DC, Kidd KK, Goodfellow PJ. Genomic and yeast artificial chromosome long-range physical maps linking six loci in 10q11.2 and spanning the multiple endocrine neoplasia type 2A (MEN2A) region. Genomics 1993; 17: 611-7.
24. Gardner E, Papi L, Easton DF, et al. Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2. Hum Mol Genet 1993; 2: 241-6.
25. Mole SE, Mulligan LM, Healey CS, Ponder BAJ, Tunnacliffe A. Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2. Hum Mol Genet 1993; 2: 247-52.
26. Mulligan LM, Kwok JBJ, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature 1993; 363: 458-60.
27. Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Hum Mol Genet 1993; 2: 851-6.
28. Takahashi M, Cooper GM. Ret transforming gene encodes a fusion protein homologous to tyrosine kinases. Mol Cell Biol 1987; 7: 1378-85.
29. Tahira T, Ishizaka Y, Itoh F, Sugimura T, Nagao M. Characterization of ret proto-oncogene mRNAs encoding two isoforms of the protein product in a human neuroblastoma cell line. Oncogene 1990; 5: 97-102.
30. Kwok JBJ, Gardner E, Warner JP, Ponder BAJ, Mulligan LM. Structural analysis of the human ret proto-oncogene using exon trapping. Oncogene 1993; 8: 2575-82.
31. Mulligan LM, Ponder BAJ. Genetic basis of endocrine disease: multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 1995; 80: 1989-95.
32. Hofstra RMW, Landsvater RM, Ceccherini I, et al. A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature 1994; 367: 375-6.
33. Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994; 91: 1579-83.
34. Eng C, Smith DP, Mulligan LM, et al. Point mutation within the tyrosine kinase domain of the RET protooncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Hum Mol Genet 1994; 3: 237-41.
35. Eng C, Smith DP, Mulligan LM, et al. A novel point mutation in the tyrosine kinase domain of the RET protooncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene 1995; 10: 509-13.
36. Bolino A, Schuffenecker I, Luo Y, et al. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 1995; 10: 2415-9.
37. Santoro M, Carlomagno F, Romano A, et al. Activation of RET as a dominantly transforming gene by germline mutations of MEN2A and MEN2B. Science 1995; 267: 381-3.
38. Wells SA Jr, Chi D, Toshima K, et al. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann Surg 1994; 220: 237-50.
39. Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.