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

MOLECULAR AND CELLULAR ENDOCRINOLOGY

卷:284

Article

Dvorakova, S.¹  Vaclavikova, E.¹  Sykorova, V.¹  Vcelak, J.¹  Novak, Z.²  Duskova, J.³  Ryska, A.^4,5  Laco, J.^4,5  Cap, J.^5,6  Kodetova, D.⁷  Kodet, R.⁷  Krskova, L.⁷  Vlcek, P.⁸  Astl, J.⁹  Vesely, D.⁹  Bendlova, B.¹ 

[1] Res Inst Endocrinol, Dept Mol Endocrinol, CR-11694 Prague 1, Czech Republic

[2] Res Inst Endocrinol, Dept Clin Epidemiol, CR-11694 Prague, Czech Republic

[3] Charles Univ Prague, Inst Pathol, Fac Med 1, Prague, Czech Republic

[4] Charles Univ Prague, Dept Pathol, Fac Med, Hradec Kralove, Czech Republic

[5] Univ Hosp, Hradec Kralove, Czech Republic

[6] Charles Univ Prague, Dept Internal Med 2, Fac Med, Hradec Kralove, Czech Republic

[7] Charles Univ Prague, Inst Pathol & Mol Med, Fac Med 2, Prague, Czech Republic

[8] Charles Univ Prague, Dept Nucl Med & Endocrinol, Fac Med 2, Prague, Czech Republic

[9] Charles Univ Prague, Dept ENT & Head & Neck Surg, Fac Med 1, Prague, Czech Republic

关键词: RET proto-oncogene;    medullary thyroid carcinoma;    somatic mutation;    genetics;    prognosis;   

DOI  :  10.1016/j.mce.2007.12.016

来源: Elsevier

【 摘 要 】

The frequency and prognostic relevance of RET proto-oncogene somatic mutations in sporadic medullary thyroid carcinoma (MTC) remain controversial. In order to study somatic mutations in the RET proto-oncogene in sporadic MTCs found in the Czech population and to correlate these mutations with clinical and pathological characteristics, we investigated 48 truly sporadic MTCs by sequencing classical risk exons 10, It, 13, 14, 15 and 16. From the 48 tumors studied, 23 (48%) had somatic mutation in the RET proto-oncogene in exons 10, 11, 15 or 16. The classical somatic mutation Met918Thr in exon 16 was only found in 13 tumors (27%). In five cases, multiple somatic mutations and deletions were detected. A statistically significant correlation between the presence of somatic mutation with more advanced pathological TNM stages was observed. Other clinical and pathological characteristics did not show any statistical significant association with the presence or absence of somatic mutation. (C) 2008 Elsevier Ireland Ltd. All rights reserved.

【 授权许可】

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