The RET p.G533C mutation confers predisposition to multiple endocrine Neoplasia type 2A in a Brazilian kindred and is able to induce a malignant phenotype in vitro and in vivo

Thyroid

Volumn 21, Issue 9, 2011, Pages 975-985

  Oliveira, Mariana N L ^a   Hemerly, Jefferson P ^a   Bastos, André U ^a   Tamanaha, Rosana ^a   Latini, Flavia R M ^a   Camacho, Cléber P ^a   Impellizzeri, Anelise ^b   MacIel, Rui M B ^a   Cerutti, Janete M ^a  

^a FEDERAL UNIVERSITY OF SÃO PAULO   (Brazil)

^b FEDERAL UNIVERSITY OF MINAS GERAIS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

CHEMOKINE RECEPTOR CXCR4; DCN PROTEIN; DNA; METADRENALIN; MITOGEN ACTIVATED PROTEIN KINASE; NORMETADRENALIN; PROTEIN; PROTEIN RET; TIMP3 PROTEIN; UNCLASSIFIED DRUG;

ADRENALECTOMY; ADULT; ANCHORAGE INDEPENDENT GROWTH; ANIMAL CELL; ANIMAL CELL CULTURE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; APOPTOSIS; ARTICLE; BRAZIL; CASE REPORT; CATECHOLAMINE URINE LEVEL; CELL PROLIFERATION; CONTROLLED STUDY; DNA ISOLATION; DOWN REGULATION; FEMALE; GENE EXPRESSION; GENE MUTATION; GENETIC PREDISPOSITION; GENETIC VARIABILITY; GENOMIC INSTABILITY; HISTOPATHOLOGY; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; LIVER METASTASIS; LYMPH NODE DISSECTION; LYMPH NODE METASTASIS; MICRONUCLEUS; MOUSE; MUTATIONAL ANALYSIS; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; PHENOTYPE; PHEOCHROMOCYTOMA; PLASMID; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN PHOSPHORYLATION; RAT; SIGNAL TRANSDUCTION; SIPPLE SYNDROME; STABLE TRANSFECTION; THYROID CELL; THYROIDECTOMY; WILD TYPE;

ADOLESCENT; ADRENAL GLAND NEOPLASMS; ANALYSIS OF VARIANCE; ANIMALS; APOPTOSIS; BRAZIL; CELL ADHESION; CELL LINE; CELL PROLIFERATION; CELL SURVIVAL; CELL TRANSFORMATION, NEOPLASTIC; ENZYME ACTIVATION; EXTRACELLULAR SIGNAL-REGULATED MAP KINASES; FEMALE; GENE EXPRESSION REGULATION, NEOPLASTIC; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LIVER NEOPLASMS; MALE; MICE; MICE, NUDE; MICRONUCLEI, CHROMOSOME-DEFECTIVE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; NEOPLASTIC SYNDROMES, HEREDITARY; PEDIGREE; PHENOTYPE; PHEOCHROMOCYTOMA; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-RET; RATS; RATS, INBRED F344; THYROID GLAND; THYROID NEOPLASMS; TRANSFECTION;

EID: 80052486093     PISSN: 10507256     EISSN: 15579077     Source Type: Journal    
DOI: 10.1089/thy.2010.0190     Document Type: Article

References (28)

1. de Groot JW, Links TP, Plukker JT, Lips CJ, Hofstra RM 2006 RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev 27:535-560. (Pubitemid 44213230)
2. Santoro M, Melillo RM, Carlomagno F, Vecchio G, Fusco A 2004 Minireview: RET: normal and abnormal functions. Endocrinology 145:5448-5451. (Pubitemid 39564582)
3. Plaza-Menacho I, Burzynski GM, de Groot JW, Eggen BJ, Hofstra RM 2006 Current concepts in RET-related genetics, signaling and therapeutics. Trends Genet 22:627-636. (Pubitemid 44602269)
4. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, Ploos van Amstel HK, Lips CJ, Nishisho I, Takai SI, Marsh DJ, Robinson BG, Frank-Raue K, Raue F, Xue F, Noll WW, Romei C, Pacini F, Fink M, Niederle B, Zedenius J, Nordenskjold M, Komminoth P, Hendy GN, Gharib H, Thibodeau SN, Lacroix A, Frilling A, Ponder BA, Mulligan LM 1996 The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575-1579. (Pubitemid 26384740)
5. Kodama Y, Asai N, Kawai K, JijiwaM,Murakumo Y, Ichihara M, Takahashi M 2005 The RET proto-oncogene: a molecular therapeutic target in thyroid cancer. Cancer Sci 96:143-148. (Pubitemid 40575914)
6. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlumberger M, Wells SA Jr. 2009 Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19:565-612.
7. Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM 2003A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab 88:5438-5443. (Pubitemid 37452751)
8. Kaldrymides P, Mytakidis N, Anagnostopoulos T, Vassiliou M, Tertipi A, Zahariou M, Rampias T, Koutsodontis G, Konstantopoulou I, Ladopoulou A, Bei T, Yannoukakos D 2006A rare RET gene exon 8 mutation is found in two Greek kindreds with familial medullary thyroid carcinoma: implications for screening. Clin Endocrinol (Oxf ) 64:561-566.
9. Bethanis S, Koutsodontis G, Palouka T, Avgoustis C, Yannoukakos D, Bei T, Papadopoulos S, Linos D, Tsagarakis S 2007A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. Hormones (Athens) 6:152-156.
10. Peppa M, Boutati E, Kamakari S, Pikounis V, Peros G, Panayiotides IG, Economopoulos T, Raptis SA, Hadjidakis D 2008 Multiple endocrine neoplasia type 2A in two families with the familial medullary thyroid carcinoma associated G533C mutation of the RET proto-oncogene. Eur J Endocrinol 159:767-771.
11. Tamanaha R, Camacho CP, Pereira AC, da Silva AM, Maciel RM, Cerutti JM 2009 Evaluation of RET polymorphisms in a six-generation family with G533C RET mutation: specific RET variants may modulate age at onset and clinical presentation. Clin Endocrinol (Oxf ) 71:56-64.
12. Nakabashi CC, Guimaraes GS, Michaluart P Jr., Ward LS, Cerutti JM, Maciel RM 2004 The expression of PAX8- PPARgamma rearrangements is not specific to follicular thyroid carcinoma. Clin Endocrinol (Oxf ) 61:280-282. (Pubitemid 39093127)
13. Cerutti JM, Latini FR, Nakabashi C, Delcelo R, Andrade VP, Amadei MJ, Maciel RM, Hojaij FC, Hollis D, Shoemaker J, Riggins GJ 2006 Diagnosis of suspicious thyroid nodules using four protein biomarkers. Clin Cancer Res 12:3311-3318.
14. Oler G, Camacho CP, Hojaij FC, Michaluart P Jr., Riggins GJ, Cerutti JM 2008 Gene expression profiling of papillary thyroid carcinoma identifies transcripts correlated with BRAF mutational status and lymph node metastasis. Clin Cancer Res 14:4735-4742.
15. Latini FR, Hemerly JP, Oler G, Riggins GJ, Cerutti JM 2008 Re-expression of ABI3-binding protein suppresses thyroid tumor growth by promoting senescence and inhibiting invasion. Endocr Relat Cancer 15:787-799.
16. Camacho CP, Latini FR, Oler G, Hojaij FC, Maciel RM, Riggins GJ, Cerutti JM 2009 Down-regulation of NR4A1 in follicular thyroid carcinomas is restored following lithium treatment. Clin Endocrinol (Oxf ) 70:475-483.
17. Fenech M 2000 The in vitro micronucleus technique. Mutat Res 455:81-95.
18. Watanabe T, Ichihara M, Hashimoto M, Shimono K, Shimoyama Y, Nagasaka T, Murakumo Y, Murakami H, Sugiura H, Iwata H, Ishiguro N, Takahashi M 2002 Characterization of gene expression induced by RET with MEN2A or MEN2B mutation. Am J Pathol 161:249-256. (Pubitemid 34760790)
19. Cerutti JM, Oler G, Delcelo R, Gerardt R, Michaluart P Jr., de Souza SJ, Galante PA, Huang P, Riggins GJ 2011 PVALB, a new Hurthle adenoma diagnostic marker identified through gene expression. J Clin Endocrinol Metab 96:E151-E160.
20. Hemerly JP, Bastos AU, Cerutti JM 2010 Identification of several novel non-p.R132 IDH1 variants in thyroid carcinomas. Eur J Endocrinol 163:747-755.
21. Melillo RM, Castellone MD, Guarino V, De Falco V, Cirafici AM, Salvatore G, Caiazzo F, Basolo F, Giannini R, Kruhoffer M, Orntoft T, Fusco A, Santoro M 2005 The RET/PTC-RASBRAF linear signaling cascade mediates the motile and mitogenic phenotype of thyroid cancer cells. J Clin Invest 115:1068-1081. (Pubitemid 40489412)
22. Fazioli F, Piccinini G, Appolloni G, Bacchiocchi R, Palmonella G, Recchioni R, Pierpaoli E, Silvetti F, Scarpelli M, Bruglia M, Melillo RM, Santoro M, Boscaro M, Taccaliti A 2008A new germline point mutation in Ret exon 8 (cys515- ser) in a family with medullary thyroid carcinoma. Thyroid 18:775-782. (Pubitemid 352009929)
23. Muzza M, Cordella D, Bombled J, Bressac-de Paillerets B, Guizzardi F, Francis Z, Beck-Peccoz P, Schlumberger M, Persani L, Fugazzola L 2010 Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol 162:771-777.
24. Mitsutake N, Knauf JA, Mitsutake S, Mesa C Jr., Zhang L, Fagin JA 2005 Conditional BRAFV600E expression induces DNA synthesis, apoptosis, dedifferentiation, and chromosomal instability in thyroid PCCL3 cells. Cancer Res 65:2465-2473. (Pubitemid 40490159)
25. Saavedra HI, Knauf JA, Shirokawa JM, Wang J, Ouyang B, Elisei R, Stambrook PJ, Fagin JA 2000 The RAS oncogene induces genomic instability in thyroid PCCL3 cells via the MAPK pathway. Oncogene 19:3948-3954. (Pubitemid 30658985)
26. Santoro M, Melillo RM, Grieco M, Berlingieri MT, Vecchio G, Fusco A 1993 The TRK and RET tyrosine kinase oncogenes cooperate with ras in the neoplastic transformation of a rat thyroid epithelial cell line. Cell Growth Differ 4:77-84.
27. Borrello MG, Alberti L, Fischer A, Degl'innocenti D, Ferrario C, Gariboldi M, Marchesi F, Allavena P, Greco A, Collini P, Pilotti S, Cassinelli G, Bressan P, Fugazzola L, Mantovani A, Pierotti MA 2005 Induction of a proinflammatory program in normal human thyrocytes by the RET/PTC1 oncogene. Proc Natl Acad Sci USA 102:14825-14830. (Pubitemid 41457140)
28. Huang SC, Koch CA, Vortmeyer AO, Pack SD, Lichtenauer UD, Mannan P, Lubensky IA, Chrousos GP, Gagel RF, Pacak K, Zhuang Z 2000 Duplication of the mutant RET allele in trisomy 10 or loss of the wild-type allele in multiple endocrine neoplasia type 2-associated pheochromocytomas. Cancer Res 60:6223-6226.