Different mutations of the RET gene cause different human tumoral diseases

Biochimie

Volumn 81, Issue 4, 1999, Pages 397-402

  Santoro, Massimo ^a   Melillo, Rosa Marina ^a   Carlomagno, Francesca ^a   Visconti, Roberta ^a   De Vita, Gabriella ^a   Salvatore, Giuliana ^a   Fusco, Alfredo ^b   Vecchio, Giancarlo ^a  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

Author keywords

Carcinoma; Kinase; Papillary; Thyroid; Tyrosine

Indexed keywords

TYROSINE KINASE RECEPTOR;

ARTICLE; ENDOCRINE TUMOR; GENE MUTATION; GENE REARRANGEMENT; HIRSCHSPRUNG DISEASE; HUMAN; NERVE GROWTH; POINT MUTATION; SIGNAL TRANSDUCTION; THYROID PAPILLARY CARCINOMA;

EID: 0032729698     PISSN: 03009084     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0300-9084(99)80087-X     Document Type: Article

References (56)

1. Jing S., Wen D., Yu Y., Holst P.L., Luo Y., Fang M., Tamir R., Antonio L., Hu Z., Cupples R., Louis J.C., Hu S., Altrock B.W., Fox G.M. GDNF-induced activation of the Ret protein tyrosine kinase is mediated by GDNFR-alpha, a novel receptor for GDNF. Cell. 85:1996;1113-1124.
2. Treanor J.J.S., Goodman L., de Sauvage F., Stone D.M., Poulsen K.T., Beck C.D., Gray C., Armanini M.P., Pollock R.A., Hefti F., Phillips H.S., Goddard A., Moore M.W., Buj-Bello A., Davies A.M., Asai N., Takahashi M., Vandlen R., Henderson C.E., Rosenthal A. Characterization of a multicomponent receptor for GDNF. Nature. 382:1996;80-83.
3. Trupp M., Arenas E., Fainzilber M., Nilsson A.S., Sleber B.A., Grigoriu M., Kilkenny C., Salazar-Grueso E., Pachnis V., Arumae U., Sariola H., Saarma M., Ibanez C.F. Functional receptor for GDNF encoded by the c-Ret proto-oncogene. Nature. 381:1996;785-789.
4. Durbec P., Marcos-Gutierrez C.V., Kilkenny C., Grigoriu M., Wartiowaara K., Suvanto P., Smith D., Ponder B., Costantini F., Saarma M., Sariola H., Pachnis V. GDNF signalling through the Ret receptor tyrosine kinase. Nature. 381:1996;789-793.
5. Klein R.D., Sherman D., Ho W.H., Stone D., Bennett G.L., Moffat B., Vandlen R., Simmons L., Gu Q., Hongo J.A., Devaux B., Poulsen K., Armanini M., Nozaki C., Asai N., Goddard A., Phillips H., Henderson C.E., Takahashi M., Rosenthal A. A GPI-linked protein that interacts with Ret to form a candidate neurturin receptor. Nature. 387:1997;717-721.
6. Buj-Bello A., Adu J., Pinon L.G., Horton A., Thompson J., Rosenthal A., Chinchetru M., Buchman V.L., Davies A.M. Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase. Nature. 387:1997;721-724.
7. Creedon D.J., Tansey M.G., Baloh R.H., Osborne P.A., Lampe P.A., Fahrner T.J., Heuckeroth R.O., Milbrandt J., Johnson E.M. Jr.,. Neurturin shares receptors and signal transduction pathways with glial cell line-derived neurotrophic factor in sympathetic neurons. Proc. Natl. Acad. Sci. USA. 94:1997;7018-7023.
8. Sanicola M., Hession C., Worley D., Carmillo P., Ehrenfels C., Walus L., Robinson S., Jaworski G., Wei H., Tizard R., Whitty A., Pepinsky R.B., Cate R.L. Glial cell line-derived neurotrophic factor-dependent RET activation can be mediated by two different cell-surface accessory proteins. Proc. Natl. Acad. Sci. USA. 94:1997;6238-6243.
9. Baloh R.H., Tansey M.G., Golden J.P., Creedon D.J., Heuckeroth R.O., Keck C.L., Zimonjic D.B., Popescu N.C., Johnson E.M. Jr., Milbrandt J. TrnR2, a novel receptor that mediates neurturin and GDNF signaling through Ret. Neuron. 18:1997;793-802.
10. Baloh R.H., Gorodinsky A., Golden J.P., Tansey M.G., Keck C.L., Popescu N.C., Johnson E.M. Jr., Milbrandt J. GFRalpha3 is an orphan member of the GDNF/neurturin/persephin receptor family. Proc. Natl. Acad. Sci. USA. 95:1998;5801-5806.
11. Milbrandt J., deSauvage F.J., Fahrner T.J., Baloh R.H., Leitner M.L., Tansey M.G., Lampe P.A., Heuckeroth R.O., Kotzbauer P.T., Simburger K.S., Golden J.P., Davies J.A., Vejsada R., Kato A.C., Hynes M., Sherman D., Nishimura M., Wang L.C., Vandlen R., Moffat B., Klein R.D., Poulsen K., Gray C., Garces A., Johnson E.M. Jr.,. Persephin, a novel neurotrophic factor related to GDNF and neurturin. Neuron. 20:1998;245-253.
12. Naveilhan P., Baudet C., Mikaels A., Shen L., Westphal H., Ernfors P. Expression and regulation of GFRalpha3, a glial cell line-derived neurotrophic factor family receptor. Proc. Natl. Acad. Sci. USA. 95:1998;1295-1300.
13. Worby C.A., Vega Q.C., Chao H.H., Seasholtz A.F., Thompson R.C., Dixon J.E. Identification and characterization of GFRalpha-3, a novel co-receptor belonging to the glial cell line-derived neurotrophic receptor family. J. Biol. Chem. 273:1998;3502-3508.
14. Jing S., Yu Y., Fang M., Hu Z., Holst P.L., Boone T., Delaney J., Schultz H., Zhou R., Fox G.M. GFRalpha-2 and GFRalpha-3 are two new receptors for ligands of the GDNF family. J. Biol. Chem. 272:1997;33111-33117.
15. Schuchardt A., D' Agati V., Larsson-Blomberg L., Costantini F., Pachnis V. Defects in the kidney and enteric nervous system of mice lacking the tyrosine kinase receptor Ret. Nature. 367:1994;380-383.
16. Sanchez M., Silos-Santiago I., Frisen J., He B., Lira S.A., Barbacid M. Renal agenesis and the absence of enteric neurons in mice lacking GDNF. Nature. 382:1996;70-73.
17. Pichel J.G., Shen L., Sheng H.Z., Granholm A.C., Drago J., Grinberg A., Lee E.J., Huang S.P., Saarma M., Hoffer B.J., Sariola H., Westphal H. Defects in enteric innervation and kidney development in mice lacking GDNF. Nature. 382:1996;73-76.
18. Moore M.W., Klein R.D., Farinas I., Sauer H., Armanini M., Phillips H., Reichardt L.F., Ryan A.M., Carver-Moore K., Rosenthal A. Renal and neuronal abnormalities in mice lacking GDNF. Nature. 382:1996;76-79.
19. Smith D.P., Eng C., Ponder B.A.J. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease. J. Cell Sci. 18:1994;43-49.
20. Pasini B., Ceccherini I., Romeo G. RET mutations in human disease. Trends Genet. 12:1996;138-144.
21. Pasini B., Borrello M.G., Greco A., Bongarzone I., Luo Y., Mondellini P., Alberti L., Miranda C., Arighi E., Bocciardi R., Seri M., Barone V., Radice M.T., Romeo G., Pierotti M. Loss of function effect of RET mutations causing Hirschsprung disease. Nature Genet. 10:1995;35-40.
22. Carlomagno F., De Vita G., Berlingieri M.T., de Franciscis V., Melillo R.M., Colantuoni V., Kraus M.H., Di Fiore P.P., Fusco A., Santoro M. Molecular heterogeneity of RET loss of function in Hirschsprung's disease. EMBO J. 15:1996;2717-2725.
23. Grieco M., Santoro M., Berlingieri M.T., Melillo R.M., Donghi R., Bongarzone I., Pierotti M.A., Della Porta G., Fusco A., Vecchio G. PTC is a novel rearranged form of the ret proto-oncogene and is frequently detected in vivo in human thyroid papillary carcinomas. Cell. 60:1990;557-563.
24. Bongarzone I., Monzini N., Borrello M.G., Carcano C., Ferraresi G., Arighi E., Mondellini P., Della Porta G., Pierotti M.A. Molecular characterization of a thyroid tumor-specific transforming sequence formed by the fusion of ret tyrosine kinase and the regulatory subunit RI alpha of cyclic AMP-dependent protein kinase A. Mol. Cell Biol. 13:1993;358-366.
25. Santoro M., Dathan N.A., Berlingieri M.T., Bongarzone I., Paulin C., Grieco M., Pierotti M.A., Vecchio G., Fusco A. Molecular characterization of RET/PTC3: a novel rearranged version of the RET proto-oncogene in a human thyroid papillary carcinoma. Oncogene. 9:1994;509-516.
26. Klugbauer S., Demidchik E.P., Lengfelder E., Rabes H.M. Detection of a novel type of RET rearrangement (PTC5) in thyroid carcinomas after Chernobyl and analysis of the involved RET-fused gene RFG5. Cancer Res. 58:1998;198-203.
27. Fugazzola L., Pierotti M.A., Vigano E., Pacini F., Vorontsova T.V., Bongarzone I. Molecular and biochemical analysis of RET/PTC4, a novel oncogenic rearrangement between RET and ELE1 genes, in a post-Chernobyl papillary thyroid cancer. Oncogene. 13:1996;1093-1097.
28. Lanzi C., Borrello M.G., Bongarzone I., Migliazza A., Fusco A., Grieco M., Santoro M., Gambetta R.A., Zunino F., Della Porta G., Pierotti M.A. Identification of the product of two oncogenic rearranged forms of the RET proto-oncogene in papillary thyroid carcinomas. Oncogene. 7:1992;2189-2194.
29. Tallini G., Santoro M., Helie M., Carlomagno F., Salvatore G., Chiappetta G., Carcangiu M.L., Fusco A. RET/PTC oncogene activation defines a subset of papillary thyroid carcinomas lacking evidence of progression to poorly differentiated or undifferentiated tumor phenotypes. Clin. Cancer Res. 4:1998;287-294.
30. Viglietto G., Chiappetta G., Martinez-Tello F.J., Fukunaga F.H., Tallini G., Rigopoulou D., Visconti R., Mastro A., Santoro M., Fusco A. RET/PTC oncogene activation is an early event in thyroid carcinogenesis. Oncogene. 11:1995;1207-1210.
31. Brennan M. USSR: medical effects of Chernobyl disaster. Lancet. 335:1990;1086.
32. Baverstock K., Egloff B., Pinchera A., Ruchti C., Williams D. Thyroid cancer after Chernobyl. Nature. 359:1992;21-22.
33. Williams D. Epidemiology. Chernobyl, eight years on. Nature. 371:1994;556.
34. Balter M. Chernobyl's thyroid cancer toll. Science. 270:1995;1758-1759.
35. Masood E. Call for more research into health effects of Chernobyl accident. Nature. 378:1995;429.
36. Bonn D. RET oncogene puzzle in Chernobyl thyroid tumours. Lancet. 347:1996;1176.
37. Fugazzola L., Pilotti S., Pinchera A., Vorontsova T.V., Mondellini P., Bongarzone I., Greco A., Astakhova L., Butti M.G., Demidchik E.P., Pacini F., Pierotti M.A. Oncogenic rearrangements of the RET proto-oncogene in papillary thyroid carcinomas from children exposed to the Chernobyl nuclear accident. Cancer Res. 55:1995;5617-5620.
38. Klugbauer S., Lengfelder E., Demidchik E.P., Rabes H.M. High prevalence of RET rearrangement in thyroid tumors of children from Belarus after the Chernobyl reactor accident. Oncogene. 11:1995;2459-2467.
39. Klugbauer S., Lengfelder E., Demidchik E.P., Rabes H.M. A new form of RET rearrangement in thyroid carcinomas of children after the Chernobyl reactor accident. Oncogene. 13:1996;1099-1102.
40. Nikiforov Y.E., Rowland J.M., Bove K.E., Monforte-Munoz H., Fagin J.A. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res. 57:1997;1690-1694.
41. Klugbauer S., Demidchik E.P., Lengfelder E., Rabes H.M. Molecular analysis of new subtypes of ELE/RET rearrangements, their reciprocal transcripts and breakpoints in papillary thyroid carcinomas of children after Chernobyl. Oncogene. 16:1998;671-675.
42. Ito T., Seyama T., Iwamoto K.S., Hayashi T., Mizuno T., Tsuyama N., Dohi K., Nakamura N., Akiyama M. In vitro irradiation is able to cause RET oncogene rearrangement. Cancer Res. 53:1993;2940-2943.
43. Santoro M., Melillo R.M., Berlingieri M.T., Grieco M., Vecchio G., Fusco A. The TRK and RET tyrosine-kinase oncogenes cooperate with ras in the neoplastic transformation of a rat thyroid epithelial cell line. Cell. Growth Diff. 4:1993;77-84.
44. Jhiang S.M., Sagaritz J.E., Tong Q., Parker-Thornburg J., Capen C.C., Cho J.Y., Xing S., Ledent C. Targeted expression of RET/PTC1 oncogene induces papillary thyroid carcinomas. Endocrinology. 137:1996;375-378.
45. Santoro M., Chiappetta G., Cerrato A., Salvatore D., Zhang L., Manzo G., Picone A., Portella G., Santelli G., Vecchio G., Fusco A. Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice. Oncogene. 12:1996;1821-1826.
46. 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. Germ-line mutations of MEN2A and MEN2B activate RET as a dominant transforming gene by different molecular mechanisms. Science. 267:1995;381-383.
47. Carlomagno F., Salvatore G., Cirafici A.M., De Vita G., Melillo R.M., de Franciscis V., Billaud M., Fusco A., Santoro M. The different RET-activating capability of mutations of cysteine 620 or cysteine 634 correlates with the multiple endocrine neoplasia type 2 disease phenotype. Cancer Res. 57:1997;391-395.
48. Chappuis-Flament S., Pasini A., De Vita G., Fusco A., Lyonnet S., Lenoir G., Santoro M., Billaud M. MEN2 mutations affecting specific extracytoplasmic cysteines exert a dual effect on the RET receptor. Oncogene. 1998;. in press.
49. Carlomagno F., Melillo R.M., Visconti R., Salvatore G., De Vita G., Lupoli G., Yu Y., Jing S., Vecchio G., Fusco A., Santoro M. GDNF differentially stimulates Ret mutants associated with the multiple endocrine neoplasia type 2 syndromes and Hirschsprung's disease. Endocrinology. 1998;. in press.
50. Wells S.A. Jr., Chi D.D., Toshima K., Dehner L.P., Coffin C.M., Dowton S.B., Ivanovich J.L., DeBenedetti 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. 220:1994;237-247.
51. Frilling A., Dralle H., Eng C., Raue F., Broelsch C.E. Presymptomatic DNA screening in families with multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma. Surgery. 118:1995;1099-1103.
52. 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. 118:1995;1031-1035.
53. Olson L. The coming of age of the GDNF family and its receptors: gene delivery in a rat Parkinson model may have clinical implications. Trends Neurosci. 20:1997;277-279.
54. Mandel R.J., Spratt S.K., Snyder R.O., Leff S.E. Midbrain injection of recombinant adeno-associated virus encoding rat glial cell line-derived neurotrophic factor protects nigral neurons in a progressive 6-hydroxydopamine-induced degeneration model of Parkinson's disease in rats. Proc. Natl. Acad. Sci. USA. 94:1997;14083-14088.
55. Bilang-Bleuel A., Revah F., Colin P., Locquet I., Robert J.J., Mallet J., Horellou P. Intrastriatal injection of an adenoviral vector expressing glial-cell-line-derived neurotrophic factor prevents dopaminergic neuron degeneration and behavioral impairment in a rat model of Parkinson disease. Proc. Natl. Acad. Sci. USA. 94:1997;8818-8823.
56. Miyoshi Y., Zhang Z., Ovadia A., Lapchak P.A., Collins F., Hilt D., Lebel C., Kryscio R., Gash D.M. Glial cell line-derived neurotrophic factor-levodopa interactions and reduction of side effects in parkinsonian monkeys. Ann. Neurol. 42:1997;208-214.