BRAFV600E mutation in the pathogenesis of a large series of papillary thyroid carcinoma in Czech Republic

Journal of Endocrinological Investigation

Volumn 33, Issue 5, 2010, Pages 318-324

  Sykorova, V ^a   Dvorakova, S ^a   Ryska, A ^b   Vcelak, J ^a   Vaclavikova, E ^a   Laco, J ^b   Kodetova, D ^c   Kodet, R ^c   Cibula, A ^c   Duskova, J ^d   Hlobilkova, A ^e   Astl, J ^c   Vesely, D ^c   Betka, J ^c   Hoch, J ^d   Smutny, S ^d   Cap, J ^b   Vlcek, P ^d   Novak, Z ^a   Bendlova, B ^a  

^a INSTITUTE OF ENDOCRINOLOGY   (Czech Republic)

^b UNIVERSITY HOSPITAL HRADEC KRALOVE   (Czech Republic)

^c UNIVERSITY HOSPITAL MOTOL   (Czech Republic)

^d CHARLES UNIVERSITY   (Czech Republic)

^e PALACKÝ UNIVERSITY   (Czech Republic)

Author keywords

BRAF mutation; Genetics; Genotype phenotype correlation; Papillary carcinoma; Thyroid

Indexed keywords

B RAF KINASE; BRAF PROTEIN, HUMAN; DNA;

ADOLESCENT; ADULT; AGED; ANAPLASTIC CARCINOMA; ARTICLE; CANCER STAGING; CHILD; CONTROLLED STUDY; CZECH REPUBLIC; DNA EXTRACTION; FEMALE; GENE MUTATION; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALE; MEDULLARY CARCINOMA; PAPILLARY CARCINOMA; PATHOGENESIS; PRESCHOOL CHILD; RECURRENT DISEASE; SCHOOL CHILD; SINGLE STRAND CONFORMATION POLYMORPHISM; THYROID CARCINOMA; TUMOR VOLUME; AGE; BIOSYNTHESIS; CANCER INVASION; CHERNOBYL ACCIDENT; CODON; EXON; GENE FREQUENCY; GENETICS; MIDDLE AGED; MUTATION; PATHOLOGY; PHYSIOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; THYROID TUMOR;

ADULT; AGE FACTORS; AGED; AGED, 80 AND OVER; CARCINOMA, PAPILLARY; CHERNOBYL NUCLEAR ACCIDENT; CODON; CZECH REPUBLIC; DNA, NEOPLASM; EXONS; FEMALE; GENE FREQUENCY; HUMANS; MALE; MIDDLE AGED; MUTATION; NEOPLASM INVASIVENESS; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; PROTO-ONCOGENE PROTEINS B-RAF; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; THYROID NEOPLASMS;

EID: 77954201670     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.1007/bf03346593     Document Type: Article

References (47)

1. Thomas GA, Bunnell H, Cook HA, et al. High prevalence of RET/PTC rearrangements in Ukrainian and Belarussian post-Chernobyl thyroid papillary carcinomas: A strong correlation between RET/PTC3 and the solid-follicular variant. J Clin Endocrinol Metab 1999, 84: 4232-8.
2. Nikiforov YE, Rowland JM, Bove KE, Monforte-Munoz H, Fagin JA. Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children. Cancer Res 1997, 57: 1690-4.
3. Beimfohr C, Klugbauer S, Demidchik E, Lengfelder E, Rabes H. NTRK1 re-arrangement in papillary thyroid carcinomas of children after the Chernobyl reactor accident, lnt J Cancer 1999, 80: 842-7. (Pubitemid 29108857)
4. Nikiforov YE, Nikiforova MN, Gnepp DR, Fagin JA. Prevalence of mutations of ras and p53 in benign and malignant thyroid tumors from children exposed to radiation after the Chernobyl nuclear accident. Oncogene 1996, 13: 687-93.
5. Santoro M, Thomas GA, Vecchio G, et al. Gene rearrangement and Chernobyl related thyroid cancers. Br J Cancer 2000, 82: 315-22.
6. Davies H, Bignell GR, Cox C, et al. Mutations of the BRAF gene in human cancer. Nature 2002, 417: 949.
7. Pollock PM, Harper UL Hansen KS, et al. High frequency of BRAF mutations in nevi. Nat Genet 2003, 33: 19-20.
8. Cohen Y, Xing M, Mambo E, et al. BRAF mutation in papillary thyroid carcinoma. J Natl Cancer Inst 2003, 95: 625-7. (Pubitemid 36553510)
9. Lee SH, Lee JW, Soung YH, et al. BRAF and KRAS mutations in stomach cancer. Oncogene 2003, 22: 6942.
10. Peyssonnaux C, Eychene A. The Raf/MEK/ERK pathway: new concepts of activation. Biol Cell 2001, 93: 53-62. (Pubitemid 33040860)
11. Wan PT, Garnett MJ, Roe SM, et al. Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cell 2004, 116: 855-67.
12. Kimura ET, Nikiforova MN, Zhu Z, Knauf JA, Nikiforov YE, Fagin JA. High prevalence of BRAF mutations in thyroid cancer Genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. Cancer Res 2003, 63: 1454-7.
13. Namba H, Nakashima M, Hayashi T, et al. Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers. J Clin Endocrinol Metab 2003, 88: 4393-7.
14. Nikiforova MN, Kimura ET, Gandhi M, et al. BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 2003, 88: 5399-404.
15. Xu X, Quiros RM, Gattuso P, Ain KB, Prinz RA. High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines. Cancer Res 2003, 63: 4561-7. (Pubitemid 36951030)
16. Kim KH, Kang DW, Kim SH, Seong IO, Kang DY. Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 2004, 45: 818-21.
17. Ciampi R, Knauf J, Kerler R, et al. Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. J Clin Invest 2005, 115: 94-101. (Pubitemid 40385509)
18. Fukushima T, Suzuki S, Mashiko M, et al. BRAF mutations in papillary carcinomas of the thyroid. Oncogene 2003, 22: 6455-7. (Pubitemid 37281692)
19. Soares P, Trovisco V, Rocha AS, et al. BRAF mutations and RET/PTC rearrangements are alternative events in the etiopathogenesis of PTC. Oncogene 2003, 22: 4578-80.
20. Xing M, Vasko V, Tallini G, et al. BRAF T1796A transversion mutation in various thyroid neoplasms. J Clin Endocrinol Metab 2004, 89: 1365-8. (Pubitemid 38368438)
21. Fugazzola L, Mennavola D, Cirello V, et al. BRAF mutations in an Italian cohort of thyroid cancers. Clin Endocrinol (Oxf) 2004, 61: 239-43. (Pubitemid 39093120)
22. Salvatore G, Giannini R, Faviana P, et al. Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma. J Clin Endocrinol Metab 2004, 89: 5175-80.
23. Goutas N, Vlachodimitropoul D, Bouka M, Lazaris AC, Nasioulas G, Gazouli M. BRAF and K-RAS mutation in a Greek papillary and medullary thyroid carcinoma cohort. Anticancer Res 2008, 28: 305-8. (Pubitemid 351362917)
24. Jo YS, Li S, Song JH, et al. Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer. J Clin Endocrinol Metab 2006, 91: 3667-70.
25. Kebebew E, Weng J, Bauer J, et al. The prevalence and prognostic value of BRAF mutation in thyroid cancer. Ann Surg 2007,246: 466-70; discussion 70-1.
26. Kim J, Giuliano AE, Turner RR, et al. Lymphatic mapping establishes the role of BRAF gene mutation in papillary thyroid carcinoma. Ann Surg 2006, 244: 799-804.
27. Lima J, Trovisco V, Soares P, et al. BRAF mutations are not a major event in post-Chernobyl childhood thyroid carcinomas. J Clin Endocrinol Metab 2004, 89: 4267-71.
28. Lupi C, Giannini R, Ugolini C, et al. Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. J Clin Endocrinol Metab 2007, 92: 4085-90.
29. Riesco-Eizaguirre G, Gutierrez-Martinez P, Garcia-Cabezas MA, Nistal M, Santisteban P. The oncogene BRAFV600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane. Endocr Relat Cancer 2006, 13: 257-69.
30. Soares P, Fonseca E, Wynford-Thomas D, Sobrinho-Simoes M. Sporadic ret-rearranged papillary carcinoma of the thyroid: a subset of slow growing, less aggressive thyroid neoplasms? J Pathol 1998, 185: 71-8.
31. Trovisco V, Soares P, Preto A, et al. Type and prevalence of BRAF mutations are closely associated with papillary thyroid carcinoma histotype and patients' age but not with tumour aggressiveness. Virchows Arch 2005, 446: 589-95.
32. Trovisco V, Vieira de Castro I, Soares P, et al. BRAF mutations are associated with some histological types of papillary thyroid carcinoma. J Pathol 2004, 202: 247-51.
33. Xing M, Westra WH, Tufano RP, et al. BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer. J Clin Endocrinol Metab 2005, 90: 6373-9.
34. Oler G, Cerutti JM. High prevalence of BRAF mutation in a Brazilian cohort of patients with sporadic papillary thyroid carcinomas: correlation with more aggressive phenotype and decreased expression of iodide-metabolizing genes. Cancer 2009, 115: 972-80.
35. Ito Y, Yoshida H, Maruo R, et al. BRAF mutation in papillary thyroid carcinoma in a Japanese population: its lack of correlation with high-risk clinicopathological features and disease-free survival of patients. Endocr J 2009, 56: 89-97.
36. Liu RT, Chen YJ, Chou FF, et al. No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan. Clin Endocrinol (Oxf) 2005, 63: 461-6.
37. Patel SG, Shah JP. TNM staging of cancers of the head and neck: Striving for uniformity among diversity. CA Cancer J Clin 2005, 55: 242-58.
38. Salvatore G, Chiappetta G, Nikiforov YE, et al. Molecular profile of hyalinizing trabecular tumours of the thyroid: high prevalence of RET/PTC rearrangements and absence of B-raf and N-ras point mutations. Eur J Cancer 2005, 41: 816-21.
39. Nakamura N, Carney JA, Jin L, et al. RASSF1A and NORE1A methylation and BRAFV600E mutations in thyroid tumors. Lab Invest 2005, 85: 1065-75.
40. Trygg J, Holmes E, Lundstedt T. Chemometrics in metabonomics. J Proteome Res 2007, 6: 469-79.
41. Xing M. BRAF mutation in papillary thyroid cancer Pathogenic role, molecular bases, and clinical implications. Endocr Rev 2007, 28: 742-62.
42. Lundgren CI, Hall P, Dickman PW, Zedenius J. Clinically significant prognostic factors for differentiated thyroid carcinoma: a population-based, nested case-control study. Cancer 2006, 106: 524-31.
43. Kazakov VS, Demidchik EP, Astakhova LN. Thyroid cancer after Chernobyl. Nature 1992, 359: 21.
44. Likhtarev IA, Sobolev BG, Kairo IA, et al. Thyroid cancer in the Ukraine. Nature 1995, 375: 365.
45. Tronko MD, Bogdanova TI, Komissarenko IV, et al. Thyroid carcinoma in children and adolescents in Ukraine after the Chernobyl nuclear accident: statistical data and clinicomorphologic characteristics. Cancer 1999, 86: 149-56.
46. Murbeth S, Rousarova M, Scherb H, Lengfelder E. Thyroid cancer has increased in the adult populations of countries moderately affected by Chernobyl fallout. Med Sci Monit 2004, 10: 300-6. (Pubitemid 38988174)
47. Nikiforova MN, Ciampi R, Salvatore G, et al. Low prevalence of BRAF mutations in radiation-induced thyroid tumors in contrast to sporadic papillary carcinomas. Cancer Lett 2004, 209: 1-6.