Functional characterization of the novel T599I-VKSRdel BRAF mutation in a follicular variant papillary thyroid carcinoma

Journal of Clinical Endocrinology and Metabolism

Volumn 93, Issue 11, 2008, Pages 4398-4402

  De Falco, Valentina ^a   Giannini, Riccardo ^b   Tamburrino, Anna ^a   Ugolini, Clara ^b   Lupi, Cristiana ^b   Puxeddu, Efisio ^c   Santoro, Massimo ^a   Basolo, Fulvio ^b  

^a UNIVERSITY OF NAPLES FEDERICO II   (Italy)

^b UNIVERSITY OF PISA   (Italy)

^c UNIVERSITY OF PERUGIA   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

B RAF KINASE; MITOGEN ACTIVATED PROTEIN KINASE;

ADULT; ARTICLE; CASE REPORT; CLINICAL TRIAL; CONTROLLED STUDY; FEMALE; FOLLICULAR CARCINOMA; GENE EXPRESSION; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; IN VITRO STUDY; PAPILLARY CARCINOMA; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SIGNAL TRANSDUCTION; SINGLE BLIND PROCEDURE; THYROID CARCINOMA;

EID: 57349147288     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2008-0887     Document Type: Article

References (18)

1. Groussin L, Fagin JA 2006 Significance of BRAF mutations in papillary thyroid carcinoma: prognostic and therapeutic implications. Nat Clin Pract Endocrinol Metab 2:180-181
2. Ciampi R, Nikiforov YE 2007 RET/PTC rearrangements and BRAF mutations in thyroid tumorigenesis. Endocrinology 148:936-941
3. Xing M 2007 BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications. Endocr Rev 28:742-762
4. Knauf JA, Ma X, Smith EP, Zhang L, Mitsutake N, Liao XH, Refetoff S, Nikiforov YE, Fagin JA 2005 Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation. Cancer Res 65:4238-4245
5. Trovisco V, Vieira de Castro I, Soares P, Máximo V, Silva P, Magalhães J, Abrosimov A, Guiu XM, Sobrinho-Simões M 2004 BRAF mutations are associated with some histological types of papillary thyroid carcinoma. J Pathol 202:247-251
6. Moretti S, Macchiarulo A, De Falco V, Avenia N, Barbi F, Carta C, Cavaliere A, Melillo RM, Passeri L, Santeusanio F, Tartaglia M, Santoro M, Puxeddu E 2006 Biochemical and molecular characterization of the novel BRAF(V599Ins) mutation detected in a classic papillary thyroid carcinoma. Oncogene 25:4235-4240
7. Castro P, Rebocho AP, Soares RJ, Magalhães J, Roque L, Trovisco V, Vieira de Castro I, Cardoso-de-Oliveira M, Fonseca E, Soares P, Sobrinho-Simões M 2006 PAX8-PPARγ rearrangement is frequently detected in the follicular variant of papillary thyroid carcinoma. J Clin Endocrinol Metab 91:213-220
8. Koh CS, Ku JL, Park SY, Kim KH, Choi JS, Kim IJ, Park JH, Oh SK, Chung JK, Lee JH, Kim WH, Kim CW, Cho BY, Park JG 2007 Establishment and characterization of cell lines from three human thyroid carcinomas: responses to all-trans-retinoic acid and mutations in the BRAF gene. Mol Cell Endocrinol 264:118-127
9. Ciampi R, Knauf JA, Kerler R, Gandhi M, Zhu Z, Nikiforova MN, Rabes HM, Fagin JA, Nikiforov YE 2005 Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer. J Clin Invest 115:94-101
10. Oler G, Ebina KN, Michaluart Jr P, Kimura ET, Cerutti J 2005 Investigation of BRAF mutation in a series of papillary thyroid carcinoma and matched-lymph node metastasis reveals a new mutation in metastasis. Clin Endocrinol (Oxf) 62:509-511
11. Trovisco V, Soares P, Soares R, Magalhaes J, Sa-Couto P, Sobrinho-Simoes M 2005 A new BRAF gene mutation detected in a case of a solid variant of papillary thyroid carcinoma. Hum Pathol 36:694-697
12. Hou P, Liu D, Xing M 2007 Functional characterization of the T1799-1801del and A1799-1816ins BRAF mutations in papillary thyroid cancer. Cell Cycle 6:377-379
13. Trovisco V, Soares P, Sobrinho-Simões M 2006 B-RAF mutations in the etiopathogenesis, diagnosis, and prognosis of thyroid carcinomas. Hum Pathol 37:781-786
14. Wan PT, Garnett MJ, Roe SM, Lee S, Niculescu-Duvaz D, Good VM, Jones CM, Marshall CJ, Springer CJ, Barford D, Marais R 2004 Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF. Cancer Genome Project. Cell 116:855-867
15. Garnett MJ, Rana S, Paterson H, Barford D, Marais R 2005 Wild-type and mutant B-RAF activate C-RAF through distinct mechanisms involving heterodimerization. Mol Cell 20:963-969
16. Lupi C, Giannini R, Ugolini C, Proietti A, Berti P, Minuto M, Materazzi G, Elisei R, Santoro M, Miccoli P, Basolo F 2007 Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma. J Clin Endocrinol Metab 92:4085-4090
17. Hedinger C, Williams ED, Sobin LH 1989 The WHO histological classification of thyroid tumors: a commentary on the second edition. Cancer 63:908-911
18. 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-RAS-BRAF linear signaling cascade mediates the motile and mitogenic phenotype of thyroid cancer cells. J Clin Invest 115: 1068-1081