Analysis of RET proto-oncogene abnormalities in patients with MEN 2A, MEN 2B, familial or sporadic medullary thyroid carcinoma

Journal of Endocrinological Investigation

Volumn 21, Issue 6, 1998, Pages 358-364

  Chiefari, E ^a   Russo, D ^b   Giuffrida, D ^c   Zampa, G A ^d   Meringolo, D ^e   Arturi, R ^a   Chiodini, I ^f   Bianchi, D ^e   Attard, M ^g   Trischitta, V ^f   Bruno, R ^h   Giannasio, P ^h   Pontecorvi, A ⁱ   Filetti, S ^a  

^a Dipto di Med Sperim e Clinica   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^c UNIVERSITY OF CATANIA   (Italy)

^d MAGGIORE HOSPITAL   (Italy)

^e Ospedale di Bentivoglio   (Italy)

^f CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^g VILLA SOFIA CERVELLO HOSPITAL   (Italy)

^h Ospedale Civile di Tinchi Pisticci   (Italy)

ⁱ CATHOLIC UNIVERSITY   (Italy)

Author keywords

Genetic analysis; Medullary thyroid carcinoma; Multiple Endocrine Neoplasia (MEN); Mutation; Restriction analysis; RET proto oncogene

Indexed keywords

DNA; RESTRICTION ENDONUCLEASE;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL ARTICLE; CODON; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE ACTIVATION; GENE AMPLIFICATION; GENE MUTATION; GERM LINE; HUMAN; HUMAN TISSUE; MALE; MULTIPLE ENDOCRINE NEOPLASIA; ONCOGENE RET; POLYMERASE CHAIN REACTION; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA;

EID: 0031850609     PISSN: 03914097     EISSN: None     Source Type: Journal    
DOI: 10.1007/BF03350771     Document Type: Article

References (24)

1. Schimke R.N. Genetic aspects of multiple endocrine neoplasia. Annu. Rev. Med. 35: 25, 1984.
2. Schimke R.N., Hartmann W.H., Prout I.E., Rimoin D.L. Syndrome of bilateral pheochromocytoma, medullary thyroid carcinoma and multiple neuromas: a possible regulatory defect in the differentiation of cromaffin tissue. N. Engl. J. Med. 279: 1, 1968.
3. Farndon J.R., Leight G.S., Dilley W.G., Baylin S.B., Smallridge R.C., Harrison T.S., Wells S.A. Jr Familial medullary thyroid carcinoma without associated endocrinopathies: a distinct clinical entity. Br. J. Surg. 73: 278, 1986.
4. Eng C. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N. Engl. J. Med. 335: 943, 1996.
5. Lips C.J.M., Hoppener J.W.M. Molecular genetics and clinical implications of medullary thyroid carcinoma and mutations of the RET protooncogene. Curr. Opin. Endocrinol. Diabetes 5: 439, 1996.
6. Eng C., Clayton D., Schuffenecker I., Lenoir G., Cote G., Gagel R., van Hamstel H.K.P., Lips C.J.M., Nishisho I., Takai S., Marsh D.J., Robinson B.G., Frank-Raue K., Raue F., Xue F., Noll W.W., Romei C., Pacini F., Fink M., Niederle B., Zedenius J., Nordenskiold M., Komminoth P., Hendy G.N., Gharib H., Thibodeau S.N., Lacroix A., Frilling A., Ponder B.A.J., Mulligan L.M. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. JAMA 276: 1575, 1996.
7. Suarez H.G., Du Villard J.A., Severino M., Caillou B., Schlumberger M., Tubiana M., Parmentier C., Monier R. Presence of mutations in all three ras genes in human thyroid tumors. Oncogene 5: 565, 1990.
8. Takahashi M., Buma Y., Iwamoto T., Inaguma Y., Ikeda H., Hiai H. Cloning and expression of the RET Proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains. Oncogene 3: 571, 1988.
9. 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 T.J.M.V., Vroom T.M. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N. Engl. J. Med. 331: 828, 1994.
10. Wells S.A., Chi D.D., Toshima K., Dehner L.P., Coffin C.M., Dowton S.B., Ivanovich J.L., De Benedetti M.K., Dilley W.G., Moley J.F., Norton J.A., Donis-Keller H. Predictive DNA testing and prophylactic thyroidectomy in patients at risk for multiple endocrine neoplasia type 2A. Ann. Surg. 220: 237, 1994.
11. Wohllk N., Cote G.J., Evans D., Goepfert H., Ordonez N., Gagel R.F. Application of genetic screening information tothe management of medullary thyroid carcinoma and multiple endocrine neoplasia. Endocr. Metab. Clin. North Am. 25: 1, 1996.
12. Ponder B.A.J., Finer N., Coffey R., Harmer C.L., Maisey M., Ormerod M.G., Pembrey M.E., Ponder M.A., Rosswick P., Shalet S. Family screening in medullary thyroid carcinoma presenting without a family history. Q. J. Med. 67: 299, 1988.
13. 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. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin. Endocrinol. (Oxf.) 118: 257, 1995.
14. Bolino A., Schuffenecker I., Luo Y., Seri M., Margherita S., Tocco T., Chabrier G., Houdent C., Murat A., Schlumberger M., Tourniaire J., Lenoir G.M., Romeo G. RET mutations in exons 13 and 14 of FMTC patients. Oncogene 70: 2415, 1995.
15. Pacini F., Romei C., Miccoli P., Elisei R., Molinaro E., Mancusi F., Iacconi P., Basolo F., Martino E., Pinchera A. Early treatment of hereditary medullary thyroid carcinoma after attribution of multiple endocrine neoplasia type 2 gene carrier status by screening for ret gene mutations. Surgery 118: 1031, 1995.
16. Hoff A.O., Gagel R.F. Multiple endocrine neoplasia types 1 and 2: phenotype, genotype, diagnosis, and therapeutic plan with special reference to children and adolescents. Curr. Opin. Endocrinol. Diabetes 4: 91, 1997.
17. Wells S.A., Moley J.F., De Benedetti M.K., Skinner M.A. Prophylactic thyroidectomy in patients with MEN 2A and familial medullary thyroid carcinoma. 6th International Workshop on Multiple Endocrine Neoplasia and Von Hippel-Lindau Disease, Amsterdam, Netherlands. 205, 1997 (Abstract).
18. Libroia A., Verga U., Lupoli G., Cascone E., Vitale G., Quadro L., Fattoruso O., Scurini C., Colantuoni V. Genetic mutations and clinical aspects of MEN 2: prevention of medullary thyroid carcinoma. 6th International Workshop on Multiple Endocrine Neoplasia and Von Hippel-Lindau Disease, Amsterdam, Netherlands. 263, 1997 (Abstract).
19. Schaap C., Moers A.M.J., Ceelen T.L., Ploos van Amstel H.J.I., Geraedts J.P.M., Lips C.J.M. Predictive DNA-testing in an extended FMTC-family with RET-mutation C618S. A clinicopathological study. 6th International Workshop on Multiple Endocrine Neoplasia and Von Hippel-Lindau Disease, Amsterdam, Netherlands. 332, 1997 (Abstract).
20. Zedenius J., Larsson C., Bergholm U., Bovée J., Svensson A., Hallengren B., Grimelius L., Backdahl M.,Weber G.,Wallin G. Mutations of codon 918 in the RET Proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. J. Clin. Endocrinol. Metab. 80: 3088, 1995.
21. Romei C., Elisei R., Pinchera A., Ceccherini I., Molinaro E., Mancusi F., Martino E., Romeo G., Pacini F. Somatic mutations of the RET protooncogene in sporadic medullary thyroid carcinoma are not restricted to exon 16 and are associated with tumor recurrence. J. Clin. Endocrinol. Metab. 87: 1619, 1996.
22. Fink M., Weinhausel A., Niederle B., Haas O.A. Distinction between sporadic and hereditary medullary thyroid carcinoma (MTC) by mutation analysis of the RET proto-oncogene. Int. J. Cancer 69: 312, 1996.
23. Marsh D.J., Learoyd D.L., Andrew S.D., Krishnan L., Pojer R., Richardson A.L., Delbridge L., Eng C., Robinson B.G. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin. Endocrinol. (Oxf). 44: 249, 1996.
24. Russo D., Arturi F., Chiefari E., Meringolo D., Bianchi D., Bellanova B., Filetti S. A case of metastatic medullary thyroid carcinoma: early identification before surgery of a RET proto-oncogene mutation in fine needle aspirate specimen. J. Clin. Endocrinol. Metab. 82: 3378, 1997.