Next »
Journal of the Chinese Medical Association
Volume 73, Issue 3
, Pages 113-128
, March 2010
BRAF Mutation in Papillary Thyroid Carcinoma: Pathogenic Role and Clinical Implications
References
-
Horner MJ, Ries LAG, Krapcho M, Neyman N, Aminou R, Howlader N, Altekruse SF, et al, eds. SEER Cancer Statistics Review, 1975–2006. Bethesda, MD: National Cancer Institute. Available at http://seer.cancer.gov/csr/1975_2006/, based on November 2008 SEER data submission, posted to the SEER website, 2009. [Date accessed: December 15, 2009]
- . A National Cancer Data Base report on 53,856 cases of thyroid carcinoma treated in the U.S., 1985–1995 . Cancer . 1998;83:2638–2648
- . Rapid communication: predominant intracellular overexpression of the Na(+)/I(−) symporter (NIS) in a large sampling of thyroid cancer cases . J Clin Endocrinol Metab . 2001;86:2697–2700
- . Long-term impact of initial surgical and medical therapy on papillary and follicular thyroid cancer . Am J Med . 1994;97:418–428
- . Current approaches to primary therapy for papillary and follicular thyroid cancer . J Clin Endocrinol Metab . 2001;86:1447–1463
- . Global cancer statistics, 2002 . CA Cancer J Clin . 2005;55:74–108
- . Chemotherapy of thyroid cancer with adriamycin: experience with 30 patients . N Engl J Med . 1974;290:193–197
- . A randomized trial of doxorubicin versus doxorubicin plus cisplatin in patients with advanced thyroid carcinoma . Cancer . 1985;56:2155–2160
- . Differentiated thyroid carcinoma: the new UICC 6th edition TNM classification system in a retrospective analysis of 169 patients . Thyroid . 2004;14:65–70
- Management guidelines for patients with thyroid nodules and differentiated thyroid cancer . Thyroid . 2006;16:109–142
- . Pathological tumor-node-metastasis (pTNM) staging for papillary and follicular thyroid carcinomas: a retrospective analysis of 700 patients . J Clin Endocrinol Metab . 1997;82:3553–3562
- Immediate causes of death in thyroid carcinoma: clinicopathological analysis of 161 fatal cases . J Clin Endocrinol Metab . 1999;84:4043–4049
-
Mutations of the BRAF gene in human cancer
. 2002;417:949–954
-
.
Guilty as charged: B-RAF is a human oncogene
.
Cancer Cell
. 2004;6:313–319
-
.
BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications
.
Endoc Rev
. 2007;28:742–762
- . Clinical implications of BRAF mutation in thyroid carcinoma . Trends Endocrinol Metab . 2008;19:138–145
- Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF . Cell . 2004;116:855–867
- . Mitogen-activated protein kinase pathways . Curr Opin Cell Biol . 1997;9:180–186
- . Mitogen-activated protein kinases in cell-cycle control . Cell Biochem Biophys . 2005;43:451–461
- . How Ras-related proteins talk to their effectors . Trends Biochem Sci . 1996;21:488–491
- . Ras proteins: different signals from different locations . Nat Rev Mol Cell Biol . 2003;4:373–384
- . Mitogenic signaling of Ras is regulated by differential interaction with Raf isozymes . Oncogene . 2000;19:169–176
- . Ras activation of the Raf kinase: tyrosine kinase recruitment of the MAP kinase cascade . Recent Prog Horm Res . 2001;56:127–155
- . RAS oncogenes: the first 30 years . Nat Rev Cancer . 2003;3:459–465
- . Positive and negative regulation of Raf kinase activity and function by phosphorylation . EMBO J . 2001;20:3716–3727
- . Activation of B-Raf kinase requires phosphorylation of the conserved residues Thr598 and Ser601 . EMBO J . 2001;19:5429–5439
- . Meaningful relationships: the regulation of the Ras/Raf/MEK/ERK pathway by protein interactions . Biochem J . 2000;351:289–305
- . The complexity of Raf-1 regulation . Curr Opin Cell Biol . 1997;9:174–179
-
.
Raf kinases: function, regulation and role in human cancer
.
Biochim Biophys Acta
. 2007;1773:1196–1212
- . Serine and tyrosine phosphorylations cooperate in Raf-1, but not B-Raf activation . EMBO J . 1999;18:2137–2148
- . Raf proteins and cancer: B-Raf is identified as a mutational target . Biochim Biophys Acta . 2003;1653:25–40
- . Differential regulation of Raf-1, A-Raf, and B-Raf by oncogenic ras and tyrosine kinases . J Biol Chem . 1997;272:4378–4383
- . The Raf/MEK/ERK pathway: new concepts of activation . Biol Cell . 2001;93:53–62
- Signal transduction mediated by the Ras/Raf/MEK/ERK pathway from cytokine receptors to transcription factors: potential targeting for therapeutic intervention . Leukemia . 2003;17:1263–1293
- . Isotype-specific functions of Raf kinases . Exp Cell Res . 1999;253:34–46
- Activated Raf-1 causes growth arrest in human small cell lung cancer cells . J Clin Invest . 1998;101:153–159
- . Senescence of human fibroblasts induced by oncogenic Raf . Genes Dev . 1998;12:2997–3007
- . The raf proteins take centre stage . Nat Rev Mol Cell Biol . 2004;5:875–885
- Constitutive activation of the 41-/43-kDa mitogen-activated protein kinase signaling pathway in human tumors . Oncogene . 1999;18:813–822
- . High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET/PTCRAS-BRAF signaling pathway in papillary thyroid carcinoma . Cancer Res . 2003;63:1454–1457
-
.
Pathogenetic mechanisms in thyroid follicular-cell neoplasia
.
Nat Rev
. 2006;6:292–306
- . RET/PTC rearrangements and BRAF mutations in thyroid tumorigenesis . Endocrinology . 2007;148:936–941
- . RET/PTC activation in papillary thyroid carcinoma: European Journal of Endocrinology Prize Lecture . Eur J Endocrinol . 2006;155:645–653
- . RET/PTC-induced dedifferentiation of thyroid cells is mediated through Y1062 signaling through SHC-RAS-MAP kinase . Oncogene . 2003;22:4406–4412
- The RET/PTCRAS-BRAF linear signaling cascade mediates the motile and mitogenic phenotype of thyroid cancer cells . J Clin Invest . 2005;115:1068–1081
- BRAF mediates RET/PTC-induced mitogen-activated protein kinase activation in thyroid cells: functional support for requirement of the RET/PTC-RAS-BRAF pathway in papillary thyroid carcinogenesis . Endocrinology . 2006;147:1014–1019
- Targeted expression of the ret/PTC1 oncogene induces papillary thyroid carcinomas . Endocrinology . 1996;137:375–378
- Development of thyroid papillary carcinomas secondary to tissue-specific expression of the RET/PTC1 oncogene in transgenic mice . Oncogene . 1996;12:1821–1826
- The RET/PTC3 oncogene: metastatic solid-type papillary carcinomas in murine thyroids . Cancer Res . 1998;58:5523–5528
- . Distinct pattern of ret oncogene rearrangements in morphological variants of radiation-induced and sporadic thyroid papillary carcinomas in children . Cancer Res . 1997;57:1690–1694
- . Detection of activated ras oncogenes in human thyroid carcinomas . Oncogene . 1988;2:403–406
- . Point mutations of ras oncogenes are an early event in thyroid tumorigenesis . Mol Endocrinol . 1990;4:1474–1479
- . Molecular profile and clinical-pathologic features of the follicular variant of papillary thyroid carcinoma: an unusually high prevalence of ras mutations . Am J Clin Pathol . 2003;120:71–77
- . The ins and outs of Raf kinases . Trends Biochem Sci . 1994;19:474–480
- . Enhanced B-Raf protein expression is independent of V600E mutant status in thyroid carcinomas . Hum Pathol . 2007;38:1810–1818
- BRAF mutations are associated with some histological types of papillary thyroid carcinoma . J Pathol . 2004;202:247–251
- Oncogenic AKAP9-BRAF fusion is a novel mechanism of MAPK pathway activation in thyroid cancer . J Clin Invest . 2005;115:94–101
- Biochemical and molecular characterization of the novel BRAF (V599Ins) mutation detected in a classic papillary thyroid carcinoma . Oncogene . 2006;25:4235–4240
- . Functional characterization of the T1799–1801del and A1799–1816ins BRAF mutations in papillary thyroid cancer . Cell Cycle . 2007;6:377–379
- . 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) . 2005;62:509–511
- Presence of BRAF V600E in very early stages of papillary thyroid carcinoma . Thyroid . 2007;17:381–388
- The BRAF mutation is not associated with poor prognostic factors in Korean patients with conventional papillary thyroid microcarcinoma . Clin Endocrinol (Oxf) . 2005;63:588–593
- Association of BRAF V600E mutation with poor clinicopathological outcomes in 500 consecutive cases of papillary thyroid carcinoma . J Clin Endocrinol Metab . 2007;92:4085–4090
- The BRAFT1796A transversion is a prevalent mutational event in human thyroid microcarcinoma . Int J Oncol . 2004;25:1729–1735
- 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;446:589–595
- Targeted expression of BRAFV600E in thyroid cells of transgenic mice results in papillary thyroid cancers that undergo dedifferentiation . Cancer Res . 2005;65:4238–4245
- Conditional activation of RET/PTC3 and BRAFV600E in thyroid cells is associated with gene expression profiles that predict a preferential role of BRAF in extracellular matrix remodeling . Cancer Res . 2006;66:6521–6529
- Inhibitors of Raf kinase activity block growth of thyroid cancer cells with RET/PTC or BRAF mutations in vitro and in vivo . Clin Cancer Res . 2006;12:1785–1793
- BRAF is a therapeutic target in aggressive thyroid carcinoma . Clin Cancer Res . 2006;12:1623–1629
- . BRAF V600E maintains proliferation, transformation, and tumorigenicity of BRAF-mutant papillary thyroid cancer cells . J Clin Endocrinol Metab . 2007;92:2264–2271
- Conditional expression of RET/PTC induces a weak oncogenic drive in thyroid PCCL3 cells and inhibits thyrotropin action at multiple levels . Mol Endocrinol . 2003;17:1425–1436
- Molecular classification of papillary thyroid carcinoma: distinct BRAF, RAS, and RET/PTC mutation-specific gene expression profiles discovered by DNA microarray analysis . Oncogene . 2005;24:6646–6656
- . Differential regulation of MAP kinase signaling by dual specificity protein phosphatases . Oncogene . 2007;26:3203–3213
- . Modulation of signaling by Sprouty: a developing story . Nat Rev Mol Cell Biol . 2004;5:441–450
-
.
Sustained activation of the mitogen-activated protein (MAP) kinase cascade may be required for differentiation of PC12 cells: comparison of the effects of nerve growth factor and epidermal growth factor
.
Biochem J
. 1992;288:351–355
- A module of negative feedback regulators defines growth factor signaling . Nat Genet . 2007;39:503–512
-
Regulation of Raf-1 by direct feedback phosphorylation
.
Mol Cell
. 2005;17:215–224
-
.
V600E BRAF is associated with disabled feedback inhibition of RAF–MEK signaling and elevated transcriptional output of the pathway
.
Proc Natl Acad Sci USA
. 2009;106:4519–4524
- . Conditional BRAFV600E expression induces DNA synthesis, apoptosis, dedifferentiation, and chromosomal instability in thyroid PCCL3 cells . Cancer Res . 2005;65:2465–2473
- Mutational profile of advanced primary and metastatic radioactive iodine-refractory thyroid cancers reveals distinct pathogenetic roles for BRAF, PIK3CA, and AKT1 . Cancer Res . 2009;69:4885–4893
- . Dysregulation of the phosphatidylinositol 3-kinase pathway in thyroid neoplasia . Endocrinol Metab Clin North Am . 2008;37:375–387
- . Mechanisms of disease: molecular genetics of childhood thyroid cancers . Nat Clin Pract Endocrinol Metab . 2007;3:422–429
- . Risk factors for thyroid cancer: an epidemiological review focused on nutritional factors . Cancer Causes Control . 2009;20:75–86
- Thyroid cancer after exposure to external radiation: a pooled analysis of seven studies . Radiat Res . 1995;141:259–277
- . Chernobyl-related ionising radiation exposure and cancer risk: an epidemiological review . Lancet Oncol . 2002;3:269–279
- Low prevalence of BRAF mutations in radiation-induced thyroid tumors in contrast to sporadic papillary carcinomas . Cancer Lett . 2004;209:1–6
- . BRAF mutation and AKAP9 expression in sporadic papillary thyroid carcinomas . Pathology . 2006;38:201–204
- BRAF(V600E) mutation and the biology of papillary thyroid cancer . Endocr Relat Cancer . 2008;15:191–205
- Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer . J Clin Endocrinol Metab . 2009;94:1612–1617
- Correlation between genetic alterations and microscopic features, clinical manifestations, and prognostic characteristics of thyroid papillary carcinomas . Am J Surg Pathol . 2006;30:216–222
- Correlation between B-RAFV600E mutation and clinico-pathologic parameters in papillary thyroid carcinoma: data from a multicentric Italian study and review of the literature . Endocr Relat Cancer . 2006;13:455–464
- The prevalence and prognostic value of BRAF mutation in thyroid cancer . Ann Surg . 2007;246:466–471
- . Mutations of the BRAF gene in papillary thyroid carcinoma and in Hashimoto's thyroiditis . Pathol Int . 2005;55:540–545
- 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;88:5399–5404
- BRAF(V600E) mutation and p27(kip1) expression in papillary carcinomas of the thyroid ≤ 1 cm and their paired lymph node metastases . Cancer . 2007;110:1218–1226
- Frequency of BRAF T1796A mutation in papillary thyroid carcinoma relates to age of patient at diagnosis and not to radiation exposure . J Pathol . 2005;205:558–564
- . High prevalence of BRAF gene mutation in papillary thyroid carcinomas and thyroid tumor cell lines . Cancer Res . 2003;63:4561–4567
- The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma . Clin Endocrinol (Oxf) . 2006;65:364–368
- . 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;115:972–980
- BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study . J Clin Endocrinol Metab . 2008;93:3943–3949
- Influence of the BRAF V600E mutation on expression of vascular endothelial growth factor in papillary thyroid cancer . J Clin Endocrinol Metab . 2006;91:3667–3670
- . The oncogene BRAF V600E 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;13:257–269
- The heterogeneous distribution of BRAF mutation supports the independent clonal origin of distinct tumor foci in multifocal papillary thyroid carcinoma . J Clin Endocrinol Metab . 2007;92:3511–3516
- Alternative mutations of BRAF, RET and NTRK1 are associated with similar but distinct gene expression patterns in papillary thyroid cancer . Oncogene . 2007;23:7436–7440
- Clinical implication of hot spot BRAF mutation, V599E, in papillary thyroid cancers . J Clin Endocrinol Metab . 2003;88:4393–4397
- BRAF mutation predicts a poorer clinical prognosis for papillary thyroid cancer . J Clin Endocrinol Metab . 2005;90:6373–6379
- High prevalence and possible de novo formation of BRAF mutation in metastasized papillary thyroid cancer in lymph nodes . J Clin Endocrinol Metab . 2005;90:5265–5269
- . Acquisition of BRAF gene mutations is not a requirement for nodal metastasis of papillary thyroid carcinoma . Clin Endocrinol (Oxf) . 2008;69:683–685
- . Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a meta-analysis . Cancer . 2007;110:38–46
- . High rate of BRAF and RET/PTC dual mutations associated with recurrent papillary thyroid carcinoma . Clin Cancer Res . 2009;15:485–491
- 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
- . Different structural components of conventional papillary thyroid carcinoma display mostly identical BRAF status . Int J Cancer . 2007;120:196–200
- BRAF mutations in papillary thyroid carcinomas inhibit genes involved in iodine metabolism . J Clin Endocrinol Metab . 2007;92:2840–2843
- No correlation between BRAFV600E mutation and clinicopathological features of papillary thyroid carcinomas in Taiwan . Clin Endocrinol (Oxf) . 2005;63:461–466
- Targeting BRAFV600E in thyroid carcinoma: therapeutic implications . Mol Cancer Ther . 2007;6:1070–1078
- Analysis of differential BRAF(V600E) mutational status in multifocal papillary thyroid carcinoma: evidence of independent clonal origin in distinct tumor foci . Cancer . 2006;107:1831–1838
- BRAF(V599E) mutation is the leading genetic event in adult sporadic papillary thyroid carcinomas . J Clin Endocrinol Metab . 2004;89:2414–2420
- Detection of BRAF mutation in thyroid papillary carcinomas by mutant allele-specific PCR amplification (MASA) . Eur J Endocrinol . 2006;154:341–348
- BRAFV600E mutation, but not RET/PTC rearrangements, is correlated with a lower expression of both thyroperoxidase and sodium iodide symporter genes in papillary thyroid cancer . Endocr Relat Cancer . 2008;15:511–520
- Molecular characteristics in papillary thyroid cancers (PTCs) with no (131)I uptake . Clin Endocrinol (Oxf) . 2008;68:108–116
- . Expression of tpo mRNA in thyroid tumors: quantitative PCR analysis and correlation with alterations of ret, Braf, ras and pax8 genes . Endocr Relat Cancer . 2006;13:485–495
- . Suppression of BRAF/MEK/MAP kinase pathway restores expression of iodide-metabolizing genes in thyroid cells expressing the V600E BRAF mutant . Clin Cancer Res . 2007;13:1341–1349
- . Characterization of the 5′-flanking region of the rat thyrotropin receptor gene . Mol Endocrinol . 1992;6:793–804
- . Regulation of the rat thyrotropin receptor gene by the methylation-sensitive transcription factor GA-binding protein . Mol Endocrinol . 1998;12:1241–1249
- American Association of Clinical Endocrinologists and Associazione MediciEndocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules . Endocr Pract . 2006;12:63–102
-
.
European consensus for the management of patients with differentiated thyroid carcinoma of the follicular epithelium
.
Eur Endocrinol
. 2006;154:787–803
- . Increased incidence of thyroid carcinoma in France: a true epidemic or thyroid nodule management effects? Report from the French thyroid cancer committee . Thyroid . 2004;14:1056–1060
- . Increasing incidence of thyroid cancer in the United States, 1973–2002 . JAMA . 2006;295:2164–2167
- . The changing incidence and spectrum of thyroid carcinoma in Tasmania (1978–1998) during a transition from iodine sufficiency to iodine deficiency . J Clin Endocrinol Metab . 2000;85:1513–1517
-
.
Changes in clinical presentation, management and outcome in 1348 patients with differentiated thyroid carcinoma: experience in a single institute in Hong Kong, 1960–2000
.
Clin Oncol
. 2003;15:329–336
- . Thyroid papillary microcarcinoma: a descriptive and metaanalysis study . Eur J Endocrinol . 2008;159:659–673
- Aggressiveness and outcome of papillary thyroid carcinoma (PTC) versus microcarcinoma (PMC): a mono-institutional experience . J Surg Oncol . 2007;95:555–560
- Microcarcinoma of the thyroid gland: the Gustave Roussy Institute experience . Cancer . 1998;83:553–559
- Clinical and histological characteristics of papillary thyroid microcarcinoma: results of a retrospective study in 243 patients . J Clin Endocrinol Metab . 2006;91:2171–2178
- . Common and uncommon sonographic features of papillary thyroid carcinoma . J Ultrasound Med . 2003;22:1083–1090
-
Papillary microcarcinoma in comparison with larger papillary thyroid carcinoma in BRAFV600E mutation, clinicopathological features, and immunohistochemical findings
.
Head Neck
. 2010;32:38–45
- Analysis of differential BRAF(V600E) mutational status in high aggressive papillary thyroid microcarcinoma . Ann Surg Oncol . 2009;16:240–245
- . The accuracy of fine-needle aspiration biopsy and frozen section in patients with thyroid cancer . Thyroid . 2002;12:619–626
- Analysis of BRAF point mutation and RET/PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma . J Clin Endocrinol Metab . 2004;89:5175–5180
- Mutational analysis of BRAF in fine-needle aspiration biopsies of the thyroid: a potential application for the preoperative assessment of thyroid nodules . Clin Cancer Res . 2004;10:2761–2765
- A morpho-molecular diagnosis of papillary thyroid carcinoma: BRAF V600E detection as an important tool in preoperative evaluation of fine-needle aspirates . Thyroid . 2009;19:837–842
- BRAF V600E mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma in fine-needle aspiration biopsies . Eur J Endocrinol . 2009;161:467–473
- Molecular testing for mutations in improving the fine-needle aspiration diagnosis of thyroid nodules . J Clin Endocrinol Metab . 2009;94:2092–2098
- BRAF mutation testing of thyroid fine-needle aspiration biopsy specimens for preoperative risk stratification in papillary thyroid cancer . J Clin Oncol . 2009;27:2977–2982
- . BRAF silencing by short hairpin RNA or chemical blockade by PLX4032 leads to different responses in melanoma and thyroid carcinoma cells . Mol Cancer Res . 2008;6:751–759
- . BRAF V600E disrupts AZD6244-induced abrogation of negative feedback pathways between extracellular signal-regulated kinase and Raf proteins . Cancer Res . 2008;68:6145–6153
- BRAF mutation predicts sensitivity to MEK inhibition . Nature . 2006;439:358–362
- . Inhibitory effects of the MEK inhibitor CI-1040 on the proliferation and tumor growth of thyroid cancer cells with BRAF or RAS mutations . J Clin Endocrinol Metab . 2007;92:4686–4695
- Phase I and pharmacodynamic study of the oral MEK inhibitor CI-1040 in patients with advanced malignancies . J Clin Oncol . 2005;23:5281–5293
- Multicenter phase II study of the oral MEK inhibitor, CI-1040, in patients with advanced non-small-cell lung, breast, colon, and pancreatic cancer . J Clin Oncol . 2004;22:4456–4462
- Sorafenib inhibits the angiogenesis and growth of orthotopic anaplastic thyroid carcinoma xenografts in nude mice . Mol Cancer Ther . 2007;6:1785–1792
- Sorafenib in advanced melanoma: a phase II randomised discontinuation trial analysis . Br J Cancer . 2006;95:581–586
- Phase II trial of sorafenib in advanced thyroid cancer . J Clin Oncol . 2008;26:4714–4719
- Phase II trial of sorafenib in metastatic thyroid cancer . J Clin Oncol . 2009;27:1675–1684
- Motesanib diphosphate in progressive differentiated thyroid cancer . N Engl J Med . 2008;359:31–42
- Axitinib is an active treatment for all histologic subtypes of advanced thyroid cancer: results from a phase II study . J Clin Oncol . 2008;26:4708–4713
PII: S1726-4901(10)70025-3
doi: 10.1016/S1726-4901(10)70025-3
© 2010 Elsevier. Published by Elsevier Inc. All rights reserved.
Next »
Journal of the Chinese Medical Association
Volume 73, Issue 3
, Pages 113-128
, March 2010
