갑상선암에서 BRAF 돌연변이의 임상적 의미
Clinical Implication of BRAF Mutation in Thyroid Cancer
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초록
The BRAFV600E mutation is the most common genetic alteration and presents in 40∼80% of all papillary thyroid cancer (PTC), showing the highest prevalence in the Korean population, close to 80%. Previous studies published in the past 10 years showed a significant correlation between BRAFV600E mutation and poor prognostic outcomes of PTC, including recurrence and mortality. Therefore, its clinical application for the diagnosis of thyroid nodule or for decisions regarding the management policy by prediction of the prognosis of thyroid cancer has been proposed. However, some recent studies have reported conflict results, and there appear to be growing concerns regard to the cost-benefit of tests for detection of the BRAFV600E mutation. In this paper, we reviewed previous studies regarding the BRAFV600E mutation and attempted to evaluate the clinical implication of the BRAFV600E mutation in clinical practice.
Abstract
The BRAFV600E mutation is the most common genetic alteration and presents in 40∼80% of all papillary thyroid cancer (PTC), showing the highest prevalence in the Korean population, close to 80%. Previous studies published in the past 10 years showed a significant correlation between BRAFV600E mutation and poor prognostic outcomes of PTC, including recurrence and mortality. Therefore, its clinical application for the diagnosis of thyroid nodule or for decisions regarding the management policy by prediction of the prognosis of thyroid cancer has been proposed. However, some recent studies have reported conflict results, and there appear to be growing concerns regard to the cost-benefit of tests for detection of the BRAFV600E mutation. In this paper, we reviewed previous studies regarding the BRAFV600E mutation and attempted to evaluate the clinical implication of the BRAFV600E mutation in clinical practice.
참고문헌 (55)
- Sebastian SO, "Papillary thyroid carcinoma: prognostic index for survival including the histological variety", Arch Surg, 135, pp.272~277 (2000)
- Samaan NA, "The results of various modalities of treatment of well differentiated thyroid carcinomas: a retrospective review of 1599 patients", J Clin Endocrinol Metab, 75, pp.714~720 (1992)
- Mazzaferri EL, "An overview of the management of papillary and follicular thyroid carcinoma", Thyroid, 9, pp.421~427 (1999)
- Xing M, "BRAF mutation in thyroid cancer", Endocr Relat Cancer, 12, pp.245~262 (2005)
- Cohen Y, "BRAF mutation in papillary thyroid carcinoma", J Natl Cancer Inst, 95, pp.625~627 (2003)
- Kim TH, "The association of the BRAF(V600E) mutation with prognostic factors and poor clinical outcome in papillary thyroid cancer: a meta-analysis", Cancer, 118, pp.1764~1773 (2012)
- Kimura ET, "High prevalence of BRAF mutations in thyroid cancer: genetic evidence for constitutive activation of the RET", PTC-RASBRAF signaling pathway in papillary thyroid carcinoma, 2003, pp.63, 1454~1457
- Yim JH, "Association between expression of X-linked inhibitor of apoptosis protein and the clinical outcome in a BRAF V600E-prevalent papillary thyroid cancer population", Thyroid, 24, pp.689~694 (2014)
- Xing M, "Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer", JAMA, 309, pp.1493~1501 (2013)
- Kwak JY, "Dual priming oligonucleotide-based multiplex PCR analysis for detection of BRAFV600E mutation in FNAB samples of thyroid nodules in BRAFV600E mutation-prevalent area", Head Neck, 32, pp.490~498 (2010)
- Chung KW, "Detection of BRAFV600E mutation on fine needle aspiration specimens of thyroid nodule refines cyto-pathology diagnosis, especially in BRAF600E mutation-prevalent area", Clin Endocrinol, 65, pp.660~666 (2006)
- Lee HJ, "Detection of BRAF mutations in thyroid nodules by allele-specific PCR using a dual priming oligonucleotide system", Am J Clin Pathol, 133, pp.802~808 (2010)
- 안수민, "Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples", Journal of Pathology and Translational Medicine, 47(4), pp.348~354 (2013), 대한병리학회[DOI]
- Lee ST, "Clinical implication of highly sensitive detection of the BRAF V600E mutation in fine-needle aspirations of thyroid nodules: a comparative analysis of three molecular assays in 4585 consecutive cases in a BRAF V600E mutation-prevalent area", J Clin Endocrinol Metab, 97, pp.2299~2306 (2012)
- Dvorak K, "Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma", Pathology (2014)
- Ilie MI, "Diagnostic value of immunohistochemistry for the detection of the BRAF(V600E) mutation in papillary thyroid carcinoma: comparative analysis with three DNA-based assays", Thyroid, 24, pp.858~866 (2014)
- Ihle MA, "Comparison of high resolution melting analysis, pyrosequencing, next generation sequencing and immunohistochemistry to conventional Sanger sequencing for the detection of p.V600E and non-p.V600E BRAF mutations", BMC Cancer, 14, pp.13~ (2014)
- Cramer JD, "Analysis of the rising incidence of thyroid cancer using the Surveillance, Epidemiology and End Results national cancer data registry", Surgery, 148, pp.1147~1152 (2010)
- Jung CK, "The increase in thyroid cancer incidence during the last four decades is accompanied by a high frequency of BRAF mutations and a sharp increase in RAS mutations", J Clin Endocrinol Metab, 99, pp.E276~E285 (2014)
- Kim TY, "The BRAF mutation is useful for prediction of clinical recurrence in low-risk patients with conventional papillary thyroid carcinoma", Clin Endocrinol, 65, pp.364~368 (2006)
- Guan H, "Association of high iodine intake with the T1799A BRAF mutation in papillary thyroid cancer", J Clin Endocrinol Metab, 94, pp.1612~1617 (2009)
- Kim KW, "Elevated risk of papillary thyroid cancer in Korean patients with Hashimoto's thyroiditis", Head Neck, 33, pp.691~695 (2011)
- Zhang L, "The clinical features of papillary thyroid cancer in Hashimoto’s thyroiditis patients from an area with a high prevalence of Hashimoto’s disease", BMC Cancer, 12, pp.610~ (2012)
- Sadow PM, "Absence of BRAF, NRAS, KRAS, HRAS mutations, and RET", PTC gene rearrangements distinguishes dominant nodules in Hashimoto thyroiditis from papillary thyroid carcinomas, 2010, pp.21, 73~79
- Kang DY, "High prevalence of RET, RAS, and ERK expression in Hashimoto's thyroiditis and in papillary thyroid carcinoma in the Korean population", Thyroid, 17, pp.1031~1038 (2007)
- Marotta V, "BRAF mutation positive papillary thyroid carcinoma is less advanced when Hashimoto's thyroiditis lymphocytic infiltration is present", Clin Endocrinol, 79, pp.733~738 (2013)
- Kleiman DA, "Preoperative BRAF(V600E) mutation screening is unlikely to alter initial surgical treatment of patients with indeterminate thyroid nodules: a prospective case series of 960patients", Cancer, 119, pp.1495~1502 (2013)
- Nikiforov YE, "Impact of mutational testing on the diagnosis and management of patients with cytologically indeterminate thyroid nodules: a prospective analysis of 1056 FNA samples", J Clin Endocrinol Metab, 96, pp.3390~3397 (2011)
- Cañadas-Garre M, "Reduction of false-negative papillary thyroid carcinomas by the routine analysis of BRAF(T1799A) mutation on fine-needle aspiration biopsy specimens: a prospective study of 814thyroid FNAB patients", Ann Surg, 255, pp.986~992 (2012)
- Colanta A, "BRAF mutation analysis of fine-needle aspiration biopsies of papillary thyroid carcinoma: impact on diagnosis and prognosis", Acta Cytol, 55, pp.563~569 (2011)
- Marchetti I, "A morpho-molecular diagnosis of papillary thyroid carcinoma: BRAF V600E detection as an important tool in preoperative evaluation of fine-needle aspirates", Thyroid, 19, pp.837~842 (2009)
- Salvatore G, "Analysis of BRAF point mutation and RET", PTC rearrangement refines the fine-needle aspiration diagnosis of papillary thyroid carcinoma, 2004, pp.89, 5175~5180
- Kebebew E, "The prevalence and prognostic value of BRAF mutation in thyroid cancer", Ann Surg, 246, pp.466~470 (2007)
- Jung CK, "Mutational patterns and novel mutations of the BRAF gene in a large cohort of Korean patients with papillary thyroid carcinoma", Thyroid, 22, pp.791~797 (2012)
- Park JY, "BRAF and RAS mutations in follicular variants of papillary thyroid carcinoma", Endocr Pathol, 24, pp.69~76 (2013)
- Hyeon J, "The prediction of malignant risk in the category "atypia of undetermined significance", follicular lesion of undetermined significance" of the Bethesda System for Reporting Thyroid Cytopathology using subcategorization and BRAF mutation results, 2014, pp.122, 368~376
- Jeong SH, "Outcome of thyroid nodules characterized as atypia of undetermined significance or follicular lesion of undetermined significance and correlation with Ultrasound features and BRAF(V600E) mutation analysis", AJR Am J Roentgenol, 201, pp.W854~W860 (2013)
- Wang CC, "A large multicenter correlation study of thyroid nodule cytopathology and histopathology", Thyroid, 21, pp.243~251 (2011)
- Kim SK, "Surgical results of thyroid nodules according to a management guideline based on the BRAF(V600E) mutation status", J Clin Endocrinol Metab, 96, pp.658~664 (2011)
- Miccoli P, "BRAF mutation status in papillary thyroid carcinoma: significance for surgical strategy", Langenbecks Arch Surg, 399, pp.225~228 (2014)
- Yang K, "BRAFV600E mutation associated with non-radioiodine-avid status in distant metastatic papillary thyroid carcinoma", Clin Nucl Med, 39, pp.675~679 (2014)
- Basolo F, "Correlation between the BRAF V600E mutation and tumor invasiveness in papillary thyroid carcinomas smaller than 20millimeters: analysis of 1060 cases", J Clin Endocrinol Metab, 95, pp.4197~4205 (2010)
- Spinelli C, "Surgical therapy of the thyroid papillary carcinoma in children: experience with 56 patients < or =16 years old", J Pediatr Surg, 39, pp.1500~1505 (2004)
- Antonelli A, "Role of neck ultrasonography in the follow-up of childrenoperated on for thyroid papillary cancer", Thyroid, 13, pp.479~484 (2003)
- Yip L, "Optimizing surgical treatment of papillary thyroid carcinoma associated with BRAF mutation", Surgery, 146, pp.1215~1223 (2009)
- Kouvaraki MA, "Role of preoperative ultrasonography in the surgical management of patients with thyroid cancer", Surgery, 134, pp.946~954 (2003)
- Antonelli A, "Thyrotropin-stimulated serum thyroglobulin combined with neck ultrasonography has the highest sensitivity in monitoring differentiated thyroid carcinoma in children", Surgery, 140, pp.1035~1041 (2006)
- Howell GM, "BRAF V600E mutation independently predicts central compartment lymph node metastasis in patients with papillary thyroid cancer", Ann Surg Oncol, 20, pp.47~52 (2013)
- Joo JY, "Prediction of occult central lymph node metastasis in papillary thyroid carcinoma by preoperative BRAF analysis using fine-needle aspiration biopsy: a prospective study", J Clin Endocrinol Metab, 97, pp.3996~4003 (2012)
- Lee JH, "Clinicopathologic significance of BRAF V600E mutation in papillary carcinomas of the thyroid: a metaanalysis", Cancer, 110, pp.38~46 (2007)
- Xing M, "BRAF mutation in papillary thyroid cancer: pathogenic role, molecular bases, and clinical implications", Endocr Rev, 28, pp.742~762 (2007)
- Ahn D, "BRAFV600E mutation does not serve as a prognostic factor in Korean patients with papillary thyroid carcinoma", Auris Nasus Larynx, 39, pp.198~203 (2012)
- Choi SY, "The relationship between the BRAF(V600E) mutation in papillary thyroid microcarcinoma and clinicopathologic factors", World J Surg Oncol, 11, pp.291~ (2013)
- Kwak JY, "Association of BRAFV600E mutation with poor clinical prognostic factors and US features in Korean patients with papillary thyroid microcarcinoma", Radiology, 253, pp.854~860 (2009)
- Kim SW, "BRAFV600E mutation analysis in fine-needle aspiration cytology specimens for evaluation of thyroid nodule: a large series in a BRAFV600E-prevalent population", J Clin Endocrinol Metab, 95, pp.3693~3700 (2010)
