Germline and somatic mutations of the RET proto-oncogene in apparently sporadic medullary thyroid carcinomas

Molecular and Cellular Endocrinology

Volumn 137, Issue 1, 1998, Pages 51-57

  Scurini, Carmen ^a   Quadro, Loredana ^b   Fattoruso, Olimpia ^b   Verga, Uberta ^c   Libroia, Alfonso ^c   Lupoli, Giovanni ^d   Cascone, Edvige ^d   Marzano, Luigi ^d   Paracchi, Sandra ^e   Busnardo, Benedetto ^f   Girelli, Maria Elisa ^f   Bellastella, Antonio ^a   Colantuoni, Vittorio ^b,g  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b Ctro Ingegneria Genet Fac M   (Italy)

^c OSPEDALE NIGUARDA CA GRANDA   (Italy)

^d UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^e FATEBENEFRATELLI HOSPITAL   (Italy)

^f UNIVERSITY OF PADOVA   (Italy)

^g UNIVERSITY MEDITERRANEA OF REGGIO CALABRIA   (Italy)

Author keywords

FMTC; MEN 2A; RET proto oncogene mutations; Sporadic medullary thyroid carcinoma

Indexed keywords

ARTICLE; CLINICAL ARTICLE; EXON; HUMAN; PRIORITY JOURNAL; PROTO ONCOGENE; SIPPLE SYNDROME; SOMATIC MUTATION; THYROID MEDULLARY CARCINOMA;

CARCINOMA, MEDULLARY; DROSOPHILA PROTEINS; GERM-LINE MUTATION; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; PROTO-ONCOGENES; RECEPTOR PROTEIN-TYROSINE KINASES; THYROID NEOPLASMS;

EID: 0032512688     PISSN: 03037207     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0303-7207(97)00234-7     Document Type: Article

References (30)

1. Block M.A., Jackson C.E., Greenawald K.A., Yott J.B., Tashjian A.H. Clinical characteristics distinguishing hereditary from sporadic medullary thyroid carcinoma treatment implications. Arch. Surg. 115:1980;142-148.
2. Bolino A., Schuffenecker Y.L., Seri M., Silengo M., 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. 10:1995;2415-2419.
3. 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. Jr Mutations in the RET proto-oncogene are associated with MEN2A and FMTC. Hum. Mol. Genet. 2:1993;851-885.
4. Eng C., Smith D., 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. 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. 10:1995a;509-513.
5. Eng C., Mulligan L.M., Smith D.P., Healey C.S., Frilling A., Raue F., Neuman H.P.H., Pfragner R., Behmel A., Lorenzo M.J., Stonehouse T.J., Ponder M.A., Ponder B.A.J. Mutation of the RET protoncogene in sporadic medullary thyroid carcinoma. Genes Chromosomes Cancer. 12:1995b;209-212.
6. Eng C., Mulligan L.M., Smith D.P., Healey C.S., Neumann P.H., Ponder B.A.J. Low frequency of germline mutations in the RET proto-oncogene in patients with apparently sporadic medullary thyroid carcinoma. Clin. Endocrinol. 43:1995c;123-127.
7. Eng C. et al. International RET Mutation Consortium Analysis. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. J. Am. Med. Assoc. 276:1996a;1575-1579.
8. Eng C., Mulligan L.M., Healey C.S., Houghton C., Frilling A., Raue F., Thomas G.A., Ponder B.A.J. Heterogeneous mutation of the RET proto-oncogene in subpopulation of medullary thyroid carcinoma. Cancer Res. 56:1996b;2167-2170.
9. Fattoruso, O., Quadro, L., Libroia, A., Verga. U., Lupoli, G., Cascone, E., and Colantuoni, V., 1997. A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma. Hum. Mutat. (in press).
10. Ferraris A.M., Mangerini R., Gaetani G.F., Romei C., Pinchera A., Pacini F. Polyclonal origin of medullary carcinoma of the tyroid in multiple endocrine neoplasia type 2. Hum. Genet. 99:1997;202-205.
11. Fink M., Weinhusel A., Niederle B., Haas O.A. Distinction between sporadic and hereditary medullary thyroid carcinoma by mutation analysis of the RET proto-oncogene. Int. J. Cancer. 69:1996;312-316.
12. Gagel, R.F., 1992. Multiple Endocrine Neoplasia. In: Wilson, Foster (Eds.), Williams Textbook of Endocrinology. Saunders, Philadelphia, pp. 1537-1552.
13. Hofstra R.M.W., Landsvater R.M., Ceccherini I., Stulp R.P., Stelwagen T., Yin L.Y., Pasini B., Hoppener J.W.M., Romeo G., Buys C.H.C.K. A mutation in RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma. Nature. 367:1994;375-376.
14. Hofstra R.M.W., Stelwagen T., Stulp R.P., de Jong D., Hulsbeek M., Kamsteeg J., van den Berg A., Landsvater R.M., Vermey A., Molenaar W.M., Lips C.J.M., Buys C.H.C.M. Extensive mutations 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. 81:1996;2881-2884.
15. Marsh D., Learuyd D., Andrew S., Mulligan L.M., Ponder B.A.J., Robinson B.G. Somatic mutations in the RET proto-oncogene in sporadic medullary thyroid carcinoma. Clin. Endocrinol. 44:1996;249-257.
16. Mulligan L.M., Kwok J.B.J., Healey C.S., Elsdon M.J., Eng C., Gardner E., Love D.R., Mole S.E., Moore J., Papi L., Ponder M.A., Telenius H., Tunnacliffe A., Ponder B.A.J. Germ-line mutations of theRET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 363:1993;458-460.
17. Mulligan L.M., Eng C., Attie T., Lyonnet S., Marsh D., Hyland V.J., Robinson B.G., Frilling A., Verellen-Dumoulin C., Safar A., Venter D.J., Munnich A., andPonder B.A.J. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN2A and FMTC. Nat. Genet. 6:1994;70-74.
18. Ponder B.A.J., Ponder M.A., Coffey R. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet. 1:1988;397-401.
19. 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., Verga U., Libroia A., Berger N., Fusco A., Grieco M., Santoro M. Frequent RET proto-oncogene mutations in multiple endocrine neoplasia Type 2A. J. Clin. Endocr. Metab. 79:1994;590-594.
20. Romei C., Elisei R., Pinchera A., Ceccherini I., Molinaro E., Mancusi F., Martino E., Romeo G., Pacini F. 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. Endocr. Metab. 81:1996;1619-1622.
21. Saad R.K., Ordonez N.G., Rashid R.K. Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine. 63:1984;319-342.
22. Santoro M., Carlomagno F., Romano A., Bottaro D.P., Dathan N.A., Grieco M., Fusco A., Vecchio G., Matoskova B., Kraus M.H., Di Fiore P.P. Activation of RET as a dominant transforming gene by germline mutations of MEN 2A and MEN 2B. Science. 267:1995;381-383.
23. Sambrook, J., Fritsch, E.F., Maniatis, T., 1989. Molecular Cloning. A Laboratory Manual, 2nd ed. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, New York.
24. Schimke R.N. Genetic aspects of multiple endocrine neoplasia. Annu. Rev. Med. 35:1994;25-31.
25. Schuffenecker I., Ginet N., Goldgar D., Eng C., Chambe B., Boneu A., Houdent C., Pallo D., Schlumberger M., Thivolet C., Lenoir G.M. Le group d'étude des tumeurs à calcitonine. Am. J. Hum. Genet. 60:1997;233-237.
26. Songyang Z., Carraway K.L., Eck M.J., Harrison S.C., Feldman R.A., Mohammadi M., Schlessinger J., Hubbard S.R., Smith D.P., Eng C., Lorenzo M.J., Ponder B.A.J., Mayer B.J., Cantley L.C. Catalytic specificity of protein-tyrosine kinase is critical for selective signalling. Nature. 373:1995;536-539.
27. Takahashi M., Buma Y., Taniguchi M. Identification of the RET proto-oncogene product in neuroblastoma and leukemia cells. Oncogene. 6:1991;297-301.
28. Wohllk N., Cote G., Bugalho M., Ordonez N., Evans D., Schultz P., Gagel R. Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J. Clin. Endocr. Metab. 81:1996;3740-3745.
29. Wright, D.K., Manos, M., 1990. Sample preparation from paraffin-embedded tissue. PCR Protocols: A Guide to Methods and Applications. Academic Press, New York, pp. 153-158.
30. Zedenius J., Wallin G., Hamberger B., Nordenskjord M., Weber G., Larsson C. Mutations of codon 918 in the RET proto-oncogene correlate to poor prognosis in sporadic medullary thyroid carcinomas. J. Clin. Endocr. Metab. 80:1995;3088-3090.