Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma

Clinical Endocrinology

Volumn 44, Issue 3, 1996, Pages 249-257

  Marsh, Debbie J ^a,b   Learoyd, Diana L ^a,b   Andrew, Scott D ^a   Krishnan, Lalitha ^a   Pojer, Ruth ^a   Richardson, Anne Louise ^a   Delbridge, Leigh ^a,b   Eng, Charis ^c,d   Robinson, Bruce G ^a,b  

^a ROYAL NORTH SHORE HOSPITAL   (Australia)

^b UNIVERSITY OF SYDNEY   (Australia)

^c UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^d HARVARD MEDICAL SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCITONIN; ENDOGENOUS COMPOUND;

ADULT; ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; HUMAN; HUMAN TISSUE; MOLECULAR BIOLOGY; PRIORITY JOURNAL; PROTO ONCOGENE; SOMATIC MUTATION; THYROID MEDULLARY CARCINOMA;

EID: 0030019642     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.1996.681503.x     Document Type: Article

References (44)

1. An, S.F. & Fleming, K.A. (1991) Removal of inhibitor (s) of the polymerase chain reaction from formalin fixed, paraffin wax embedded tissues. Journal of Clinical Pathology, 44, 924-927.
2. Asai, N., Iwashita, T., Matsuyama, M. & Takahashi, M. (1995) Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2 A mutations. Molecular & Cellular Biology, 15, 1613-1619.
3. Ausubel, F.M., Brent, R., Kingston, R.E., Moore, D.D., Seidman, J.G., Smith, J.A. & Struhl, K (eds.) (1988) Current Protocols in Molecular Biology. Canada. Greene Publishing Associates, Inc7. & John Wiley and Sons, Inc., 14.3.2.
4. Barbot, N., Calmettes, C., Schuffenecker, I., Saint Andre, J.P., Franc, B., Rohmer, V., Jallet, P. & Bigorgne, J.C. (1994) Pentagastrin stimulation test and early diagnosis of medullary thyroid carcinoma using an immunoradiometric assay of calcitonin: comparison with genetic screening in hereditary medullary thyroid carcinoma. Journal of Clinical Endocrinology & Metabolism, 78, 114-120.
5. Beldjord, C., Desclaux-Arramond, F., Raffin-Sanson, M., Corvol, J.C., Keyzer, Y., Luton, J.P., Plouin, P.F. & Bertagna, X. (1995) The RET protooncogene in sporadic pheochromocytomas: Frequent MEN 2-like mutations and new molecular defects. Journal of Clinical Endocrinology and Metabolism, 80, 2063-2068.
6. Blaugrund, J.E., Johns, M.M., Eby, Y.J., Ball, D.W., Baylin, S.B., Hruban, R.H. & Sidransky, D. (1994) RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer. Human Molecular Genetics, 3, 1895-1897.
7. Block, M.A., Jackson, C.E., Greenawald, K.A., Yott, J.B. & Tashjian, A.H. (1980) Clinical characteristics distinguishing hereditary from sporadic medullary thyroid carcinoma. Treatment implications. Archives of Surgery, 115, 142-148.
8. Carlson, K.M., Dou, S., Chi, D., Scavarda, N., Toshima, K., Jackson, C.E., Wells, S.A., Goodfellow, P.J. & Donis-Keller, H. (1994a) Single missense mutation in the tyrosine kinase catalytic domain of the RET prolooncogene is associated with multiple endocrine neoplasia type 2B. Proceedings of the National Academy of Science, 91, 1579-1583.
9. Carlson, K.M., Bracamontes, J., Jackson, C.E., Clark, R., Lacroix, A., Wells, S.A. & Goodfellow, P.J. (1994b) Parent of origin effects in multiple endocrine neoplasia type 2B. American Journal of Human Genetics, 55, 1076-1082.
10. 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. (1993) Mutations in the RET proto-oncogene are associated with MEN 2 A and FMTC. Human Molecular Genetics, 2, 851-856.
11. Dou, C., Chi, D., Carlson, K.M., Moley, J.A., Wells, S.A. & Donis-Keller, H. (1994) RET protooncogene mutations associated with sporadic cases of medullary thyroid carcinoma. Proceedings of the Fifth International Workshop on Multiple Endocrine Neoplasia. 73.
12. Eng, C., Smith, D.P., Mulligan, L.M., Nagai, M.A., Healey, C.S., Ponder, M.A., Gardner, E., Scheumann, G.F.W., Jackson, C.E., Tunnacliffe, A. & Ponder, B.A.J. (1994) Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumors. Human Molecular Genetics, 3, 237-241.
13. Eng, C., Mulligan, L.M., Smith, D.P., Healey, C.S., Frilling, A., Raue, F., Neumann, H.P.H., Pfragner, R., Behmel, A., Lorenzo, M.J., Stonehouse, T.J., Ponder, M.A. & Ponder, B.A.J. (1995a) Mutation of the RET protooncogene in sporadic medullary thyroid carcinoma. Genes, Chromosomes & Cancer, 12, 209-212.
14. Eng, C., Mulligan, L.M., Smith, D.P., Healey, C.S., Frilling, A., Raue, F., Neumann, H.P.H., Ponder, M.A. & Ponder, B.A.J. (1995b) Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clinical Endocrinology, 43, 123-127.
15. Eng, C., Smith, D.P., Mulligan, L.M., Healey, C.S., Zvelebil, M.J., Stonehouse, T.J., Ponder, M.A., Jackson, C.E., Waterfield, M.D. & Ponder, B.A.J. (1995c) A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC. Oncogene, 10, 509-513.
16. Eng, C., Crossey, P.A., Mulligan, L.M., Healey, C.S., Houghton, C., Prowse, A., Chew, S.L., Dahia, P.L.M., O'Riordan, J.L.H., Toledo, S.P.A., Smith, D.P., Maher, E.R. & Ponder, B.A.J. (1995d) Mutations in the RET proto-oncogene and the von Hippel Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. Journal of Medical Genetics, 32, 934-937.
17. Furlong, T., Chan, Y.L., Cornish, C., McDowall, D., Mahoney, J. & Clifton-Bligh, P. (1991) Immunoreactive serum calcitonin and skeletal histology in chronic renal failure. Nephron, 58, 138-143.
18. Gall, K., Pavelic, J., Jadro-Santel, D., Poljak, M. & Pavelic, K. (1993) DNA amplification by polymerase chain reaction from brain tissues embedded in paraffin. International Journal of Experimental Pathology, 74, 333-337.
19. Hofstra, R.M., Landsvater, R.M., Ceccherini, I., Stulp, R.P., Stelwagen, T., Luo, Y., Pasini, B., Hoppenner, J.W., van Amstel, H.K., Romeo, G., Lips, C.J.M. & Buys, C.H.C.M. (1994) A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature, 367, 375-376.
20. Hyland, V.J., Grist, S., Callen, D.F. & Sutherland, G.R. (1988) Anonymous DNA probes to human chromosome 16 derived from a flow-purified library. American Journal of Human Genetics, 42, 373-379.
21. Khosla, S., Patel, V.M., Schaid, D.J., Grant, C.S. van Heerden, J.A. & Thibodeau, S.N. (1991) Loss of heterozygosity suggests multiple genetic alterations in pheochromocytomas and medullary thyroid carcinomas. Journal of Clinical Investigation, 87, 1691-1699.
22. Komminoth, P., Kunz, E.K., Matias-Guiu, X., Hiort, O., Christiansen, G., Colomer, A., Roth, J. & Heitz, P.U. (1995) Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer, 76, 479-489.
23. Kosel, K. & Graeber, M.B. (1994) Use of neuropathological tissue for molecular genetic studies: parameters affecting DNA extraction and polymerase chain reaction. Acta Neuropathol, 88, 19-25.
24. Landsvater, R.M., Rombouts, A.G., te Meerman, G.J., Schillhorn van Veen, J.M., Berends, M.J., Geerdink, R.A., Struyvenberg, A., Buys, C.H. & Lips, C.J. (1993) The clinical implications of a positive calcitonin test for C-cell hyperplasia in genetically unaffected members of an MEN 2A kindred. American Journal of Human Genetics, 52, 335-342.
25. Lindor, N.M., Honchel, R., Khosla, S. & Thibodeau, S.N. (1995) Mutations in the RET protooncogene in sporadic pheochromocytomas. Journal of Clinical Endocrinology and Metabolism, 80, 627-629.
26. Lips, C.J.M., Landsvater, R.M., Hoppener, J.W.M., Geerdink, R.A., Blijham, G., Jansen-Schillhorn van Veen, J.M., van Gils, A.P.G., de Wit, M.J., Zewald, R.A., Berends, M.J.H., Beemer, F.A., Brouwers-Smalbraak, J., Jansen, R.P.M., van Amstel, H.K.P., van Vroonhoven, J.M.V. & Vroom, T.M. (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. New England Journal of Medicine, 331, 828-835.
27. Marsh, D.J., Robinson, B.G., Andrew, S., Richardson, A.-L., Pojer, R., Schnitzler, M., Mulligan, L. & Hyland, V.J. (1994) A rapid screening method for the detection of mutations in the RET proto-oncogene in multiple endocrine neoplasia type 2A and familial medullary thyroid carcinoma families. Genomics, 23, 477-479.
28. Marsh, D.J., McDowall, D., Hyland, V.J., Andrew, S.D., Schnitzler, M., Gaskin, E.L., Nevell, D.F., Diamond, T., Delbridge, L., Clifton-Bligh, P. & Robinson, B.G. (1996) The identification of false positive responses to the pentagastrin stimulation test in RET mutation negative members of MEN 2A families. Clinical Endocrinology, 44, 213-220.
29. 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., Ponder, M.A., Telenius, H., Tunnacliffe, A. & Ponder, B.A.J. (1993a) Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature, 363, 458-460.
30. Mulligan, L.M., Gardner, E., Smith, B.A., Mathew, C.G.P. & Ponder, B.A.J. (1993b) Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2. Genes, Chromosomes and Cancer, 6, 166-177.
31. 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., Venter, D.J., Munnich, A. & Ponder, B.A.J. (1994) Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Human Molecular Genetics, 3, 2163-2167.
32. Mulligan, L.M., Marsh, D.J., Robinson, B.G., Lenoir, G., Schuffenecker, I., Nordenskjold, M., Zedenius, J., Ploos van Amstel, J.K., Landsvater, R.M., Lips, C.J.M., Gagel, R.F., Cote, G.J., Takai, S.-I., Nishisho, I., Akagi, K., Noll, W.W., Xue, F., Fink, M., Niederle, B., Raue, F., Lacroix, A., Gaboury, L., Thibodeau, S., Gharib, H., Frilling, A., Ponder, B.A.J. & Eng, C. (1995) Genotype-phenotype correlation in MEN 2: Report of the International RET mutation consortium. Journal of Internal Medicine, 238, 343-346.
33. Ohara, Y., Honma, M. & Iwasaki, Y. (1992) Sensitivity of the polymerase chain reaction for detecting human T-cell leukemia virus type I sequences in paraffin-embedded tissue. Effect of unbuffered formalin fixation. Journal of Virological Methods, 37, 83-88.
34. Quadro, L., Panariello, L., Salvatore, D., Carlomagno, F., del Prete, M., Nunziata, V., Colantuoni, V., di Giovanni, G., Brandi, M.L., Mannelli, M., Gheri, R., Veerga, U., Libroia, A., Berger, N., Fusco, A., Greico, M. & Santoro, M. (1994) Frequent RET proto-oncogene mutations in multiple endocrine neoplasia type 2 A. Journal of Clinical Endocrinology & Metabolism, 79, 590-594.
35. Saad, M.F., Ordonez, N.G., Rashid, R.K., Guido, J.J., Hill, C.S., Hickey, R.C. & Samaan, N.A. (1984) Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine Baltimore, 63, 319-342.
36. Santoro, M., Carlomagno, F., Romano, A., Bottaro, D.P., Dathan, N.A., Greico, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M.H. & di Fiore, P.P. (1995) Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science, 267, 381-383.
37. Schuffenecker, I., Billaud, M., Calender, A., Chambe, B., Ginet, N., Calmettes, C., Modigliani, E., Lenoir, G.M. & the GETC (1994) RET proto-oncogene mutations in French MEN 2A and FMTC families. Human Molecular Genetics, 3, 1939-1943.
38. Smyth, C.M., Helmer, M.A., Dalla Pozza, L. & Rowe, P.B. (1993) Flow cytometric DNA analyses of frozen samples from children's solid tumors. Pathology, 25, 388-393.
39. Songyang, Z., Carraway, K.L., Eck, M.J., Harrison, S.C., Feldman, R.A., Mohammad, M., Schlessinger, J., Hubbard, S.R., Smith, D.P., Eng, C., Lorenzo, M.J., Ponder, B.A.J., Mayer, B.J. & Cantley, L.C. (1995) Catalytic specificity of protein tyrosine kinases is critical for selective signalling. Nature, 373, 536-539.
40. Tsai, M.-S., Ledger, G.A., Khosla, S., Gharib, H. & Thibodeau, S.N. (1994) Identification of multiple endocrine neoplasia, type 2 gene carriers using linkage analysis and analysis of the RET proto-oncogene. Journal of Clinical Endocrinology & Metabolism, 78, 1261-1264.
41. Vary, P.H., Andersen, P.R., Green, E., Hermon-Taylor, J. & McFadden, J.J. (1990) Use of highly specific DNA probes and the polymerase chain reaction to detect Mycobacterium paratuberculosis in Johne's disease. Journal of Clinical Microbiology, 28, 933-937.
42. Wells, S.A., Chi, D.D., Toshima, K., Dehner, L.P., Coffin, C.M., Dowton, B., Ivanovich, J.L., DeBenedetti, M.K., Dilley, W.G., Moley, J.F., Norton, J.A. & Donis-Keller, H. (1994) Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Annals of Surgery, 220, 237-250.
43. Xue, F., Yu, H., Maurer, L.H., Memoli, V.A., Nutile-McMenemy, N., Schuster, M.K., Bowden, D.W., Mao, J. & Noll, W. (1994) Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests. Human Molecular Genetics, 3, 635-638.
44. Zedenius, J., Wallin, G., Hamberger, B., Nordenskjold, M., Weber, G. & Larsson, C. (1994) Somatic and MEN 2A de novo mutations identified in the RET proto-oncogene by screening of sporadic MTC: s. Human Molecular Genetics, 3, 1259-1262.