Skip to main content
Erschienen in: Virchows Archiv 2/2015

01.08.2015 | Original Article

VE1 immunohistochemical detection of the BRAF V600E mutation in thyroid carcinoma: a review of its usefulness and limitations

verfasst von: Jong-In Na, Jo-Heon Kim, Hye-Jeong Kim, Hee-Kyung Kim, Kyung-Sub Moon, Ji-Shin Lee, Jae-Hyuk Lee, Kyung-Hwa Lee, Jong-Tae Park

Erschienen in: Virchows Archiv | Ausgabe 2/2015

Einloggen, um Zugang zu erhalten

Abstract

The BRAF V600E mutation is a valuable prognostic factor in thyroid carcinoma despite lingering debate. Successful immunohistochemical (IHC) detection of the BRAF V600E mutation using a VE1 antibody was introduced recently. The objective of this study was to verify the usefulness of IHC detection of the BRAF V600E mutation in thyroid carcinoma using the VE1 antibody. IHC detection of BRAF V600E was performed on various thyroid carcinoma subtypes. IHC results were compared with those obtained from real-time polymerase chain reaction (PCR) detection. Discordant cases were re-examined using a direct sequencing method following nested PCR amplification. The BRAF V600E mutation was detected in 68 % (71/104) of papillary carcinoma cases and 78 % (7/9) of anaplastic carcinoma cases. The mutation was not detected in patients with follicular carcinoma (0/18) or in medullary carcinoma (0/21). The overall sensitivity and specificity of IHC using the VE1 antibody were 100 and 94 %, respectively, suggesting that molecular-based results were indeterminable in four VE1-positive cases. IHC using the VE1 antibody is a highly sensitive and specific method for BRAF V600E mutation detection and may represent a future replacement for DNA-based molecular tests.
Literatur
3.
Zurück zum Zitat Cooper DS, Doherty GM, Haugen BR, Kloos RT, Lee SL, Mandel SJ, Mazzaferri EL, McIver B, Pacini F, Schlumberger M, Sherman SI, Steward DL, Tuttle RM (2009) Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 19(11):1167–1214. doi:10.1089/thy.2009.0110 PubMedCrossRef Cooper DS, Doherty GM, Haugen BR, Kloos RT, Lee SL, Mandel SJ, Mazzaferri EL, McIver B, Pacini F, Schlumberger M, Sherman SI, Steward DL, Tuttle RM (2009) Revised American Thyroid Association management guidelines for patients with thyroid nodules and differentiated thyroid cancer. Thyroid 19(11):1167–1214. doi:10.​1089/​thy.​2009.​0110 PubMedCrossRef
6.
Zurück zum Zitat 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. Cell 116(6):855–867PubMedCrossRef 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. Cell 116(6):855–867PubMedCrossRef
7.
Zurück zum Zitat Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA (2002) Mutations of the BRAF gene in human cancer. Nature 417(6892):949–954. doi:10.1038/nature00766 PubMedCrossRef Davies H, Bignell GR, Cox C, Stephens P, Edkins S, Clegg S, Teague J, Woffendin H, Garnett MJ, Bottomley W, Davis N, Dicks E, Ewing R, Floyd Y, Gray K, Hall S, Hawes R, Hughes J, Kosmidou V, Menzies A, Mould C, Parker A, Stevens C, Watt S, Hooper S, Wilson R, Jayatilake H, Gusterson BA, Cooper C, Shipley J, Hargrave D, Pritchard-Jones K, Maitland N, Chenevix-Trench G, Riggins GJ, Bigner DD, Palmieri G, Cossu A, Flanagan A, Nicholson A, Ho JW, Leung SY, Yuen ST, Weber BL, Seigler HF, Darrow TL, Paterson H, Marais R, Marshall CJ, Wooster R, Stratton MR, Futreal PA (2002) Mutations of the BRAF gene in human cancer. Nature 417(6892):949–954. doi:10.​1038/​nature00766 PubMedCrossRef
8.
Zurück zum Zitat Lanzilotta SG, Grammatica L, Paradiso A, Simone G (2007) BRAF in papillary thyroid carcinoma. Cell Oncol 29(4):269–277PubMed Lanzilotta SG, Grammatica L, Paradiso A, Simone G (2007) BRAF in papillary thyroid carcinoma. Cell Oncol 29(4):269–277PubMed
9.
Zurück zum Zitat Fugazzola L, Puxeddu E, Avenia N, Romei C, Cirello V, Cavaliere A, Faviana P, Mannavola D, Moretti S, Rossi S, Sculli M, Bottici V, Beck-Peccoz P, Pacini F, Pinchera A, Santeusanio F, Elisei R (2006) 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 13(2):455–464. doi:10.1677/erc.1.01086 PubMedCrossRef Fugazzola L, Puxeddu E, Avenia N, Romei C, Cirello V, Cavaliere A, Faviana P, Mannavola D, Moretti S, Rossi S, Sculli M, Bottici V, Beck-Peccoz P, Pacini F, Pinchera A, Santeusanio F, Elisei R (2006) 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 13(2):455–464. doi:10.​1677/​erc.​1.​01086 PubMedCrossRef
10.
Zurück zum Zitat Ito Y, Yoshida H, Maruo R, Morita S, Takano T, Hirokawa M, Yabuta T, Fukushima M, Inoue H, Tomoda C, Kihara M, Uruno T, Higashiyama T, Takamura Y, Miya A, Kobayashi K, Matsuzuka F, Miyauchi A (2009) 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 56(1):89–97PubMedCrossRef Ito Y, Yoshida H, Maruo R, Morita S, Takano T, Hirokawa M, Yabuta T, Fukushima M, Inoue H, Tomoda C, Kihara M, Uruno T, Higashiyama T, Takamura Y, Miya A, Kobayashi K, Matsuzuka F, Miyauchi A (2009) 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 56(1):89–97PubMedCrossRef
11.
Zurück zum Zitat Koperek O, Kornauth C, Capper D, Berghoff AS, Asari R, Niederle B, von Deimling A, Birner P, Preusser M (2012) Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma. Am J Surg Pathol 36(6):844–850. doi:10.1097/PAS.0b013e318246b527 PubMedCrossRef Koperek O, Kornauth C, Capper D, Berghoff AS, Asari R, Niederle B, von Deimling A, Birner P, Preusser M (2012) Immunohistochemical detection of the BRAF V600E-mutated protein in papillary thyroid carcinoma. Am J Surg Pathol 36(6):844–850. doi:10.​1097/​PAS.​0b013e318246b527​ PubMedCrossRef
13.
Zurück zum Zitat Elisei R, Ugolini C, Viola D, Lupi C, Biagini A, Giannini R, Romei C, Miccoli P, Pinchera A, Basolo F (2008) BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study. J Clin Endocrinol Metab 93(10):3943–3949. doi:10.1210/jc.2008-0607 PubMedCrossRef Elisei R, Ugolini C, Viola D, Lupi C, Biagini A, Giannini R, Romei C, Miccoli P, Pinchera A, Basolo F (2008) BRAF(V600E) mutation and outcome of patients with papillary thyroid carcinoma: a 15-year median follow-up study. J Clin Endocrinol Metab 93(10):3943–3949. doi:10.​1210/​jc.​2008-0607 PubMedCrossRef
14.
Zurück zum Zitat Basolo F, Torregrossa L, Giannini R, Miccoli M, Lupi C, Sensi E, Berti P, Elisei R, Vitti P, Baggiani A, Miccoli P (2010) Correlation between the BRAF V600E mutation and tumor invasiveness in papillary thyroid carcinomas smaller than 20 millimeters: analysis of 1060 cases. J Clin Endocrinol Metab 95(9):4197–4205. doi:10.1210/jc.2010-0337 PubMedCrossRef Basolo F, Torregrossa L, Giannini R, Miccoli M, Lupi C, Sensi E, Berti P, Elisei R, Vitti P, Baggiani A, Miccoli P (2010) Correlation between the BRAF V600E mutation and tumor invasiveness in papillary thyroid carcinomas smaller than 20 millimeters: analysis of 1060 cases. J Clin Endocrinol Metab 95(9):4197–4205. doi:10.​1210/​jc.​2010-0337 PubMedCrossRef
15.
Zurück zum Zitat Kim KH, Kang DW, Kim SH, Seong IO, Kang DY (2004) Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 45(5):818–821PubMedCrossRef Kim KH, Kang DW, Kim SH, Seong IO, Kang DY (2004) Mutations of the BRAF gene in papillary thyroid carcinoma in a Korean population. Yonsei Med J 45(5):818–821PubMedCrossRef
16.
Zurück zum Zitat Jeong D, Jeong Y, Park JH, Han SW, Kim SY, Kim YJ, Kim SJ, Hwangbo Y, Park S, Cho HD, Oh MH, Yang SH, Kim CJ (2013) BRAF (V600E) mutation analysis in papillary thyroid carcinomas by peptide nucleic acid clamp real-time PCR. Ann Surg Oncol 20(3):759–766. doi:10.1245/s10434-012-2494-0 PubMedCrossRef Jeong D, Jeong Y, Park JH, Han SW, Kim SY, Kim YJ, Kim SJ, Hwangbo Y, Park S, Cho HD, Oh MH, Yang SH, Kim CJ (2013) BRAF (V600E) mutation analysis in papillary thyroid carcinomas by peptide nucleic acid clamp real-time PCR. Ann Surg Oncol 20(3):759–766. doi:10.​1245/​s10434-012-2494-0 PubMedCrossRef
17.
Zurück zum Zitat Rossi ED, Martini M, Capodimonti S, Lombardi CP, Pontecorvi A, Vellone VG, Zannoni GF, Larocca LM, Fadda G (2013) BRAF (V600E) mutation analysis on liquid-based cytology-processed aspiration biopsies predicts bilaterality and lymph node involvement in papillary thyroid microcarcinoma. Cancer Cytopathol 121(6):291–297. doi:10.1002/cncy.21258 PubMedCrossRef Rossi ED, Martini M, Capodimonti S, Lombardi CP, Pontecorvi A, Vellone VG, Zannoni GF, Larocca LM, Fadda G (2013) BRAF (V600E) mutation analysis on liquid-based cytology-processed aspiration biopsies predicts bilaterality and lymph node involvement in papillary thyroid microcarcinoma. Cancer Cytopathol 121(6):291–297. doi:10.​1002/​cncy.​21258 PubMedCrossRef
18.
Zurück zum Zitat Elisei R, Viola D, Torregrossa L, Giannini R, Romei C, Ugolini C, Molinaro E, Agate L, Biagini A, Lupi C, Valerio L, Materazzi G, Miccoli P, Piaggi P, Pinchera A, Vitti P, Basolo F (2012) The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. J Clin Endocrinol Metab 97(12):4390–4398. doi:10.1210/jc.2012-1775 PubMedCrossRef Elisei R, Viola D, Torregrossa L, Giannini R, Romei C, Ugolini C, Molinaro E, Agate L, Biagini A, Lupi C, Valerio L, Materazzi G, Miccoli P, Piaggi P, Pinchera A, Vitti P, Basolo F (2012) The BRAF(V600E) mutation is an independent, poor prognostic factor for the outcome of patients with low-risk intrathyroid papillary thyroid carcinoma: single-institution results from a large cohort study. J Clin Endocrinol Metab 97(12):4390–4398. doi:10.​1210/​jc.​2012-1775 PubMedCrossRef
19.
Zurück zum Zitat Xing M, Alzahrani AS, Carson KA, Viola D, Elisei R, Bendlova B, Yip L, Mian C, Vianello F, Tuttle RM, Robenshtok E, Fagin JA, Puxeddu E, Fugazzola L, Czarniecka A, Jarzab B, O’Neill CJ, Sywak MS, Lam AK, Riesco-Eizaguirre G, Santisteban P, Nakayama H, Tufano RP, Pai SI, Zeiger MA, Westra WH, Clark DP, Clifton-Bligh R, Sidransky D, Ladenson PW, Sykorova V (2013) Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 309(14):1493–1501. doi:10.1001/jama.2013.3190 PubMedCentralPubMedCrossRef Xing M, Alzahrani AS, Carson KA, Viola D, Elisei R, Bendlova B, Yip L, Mian C, Vianello F, Tuttle RM, Robenshtok E, Fagin JA, Puxeddu E, Fugazzola L, Czarniecka A, Jarzab B, O’Neill CJ, Sywak MS, Lam AK, Riesco-Eizaguirre G, Santisteban P, Nakayama H, Tufano RP, Pai SI, Zeiger MA, Westra WH, Clark DP, Clifton-Bligh R, Sidransky D, Ladenson PW, Sykorova V (2013) Association between BRAF V600E mutation and mortality in patients with papillary thyroid cancer. JAMA 309(14):1493–1501. doi:10.​1001/​jama.​2013.​3190 PubMedCentralPubMedCrossRef
20.
Zurück zum Zitat Barollo S, Pennelli G, Vianello F, Watutantrige Fernando S, Negro I, Merante Boschin I, Pelizzo MR, Rugge M, Mantero F, Nacamulli D, Girelli ME, Busnardo B, Mian C (2010) BRAF in primary and recurrent papillary thyroid cancers: the relationship with (131)I and 2-[(18)F]fluoro-2-deoxy-D-glucose uptake ability. Eur J Endocrinol 163(4):659–663. doi:10.1530/eje-10-0290 PubMedCrossRef Barollo S, Pennelli G, Vianello F, Watutantrige Fernando S, Negro I, Merante Boschin I, Pelizzo MR, Rugge M, Mantero F, Nacamulli D, Girelli ME, Busnardo B, Mian C (2010) BRAF in primary and recurrent papillary thyroid cancers: the relationship with (131)I and 2-[(18)F]fluoro-2-deoxy-D-glucose uptake ability. Eur J Endocrinol 163(4):659–663. doi:10.​1530/​eje-10-0290 PubMedCrossRef
21.
Zurück zum Zitat Dvorak K, Aggeler B, Palting J, McKelvie P, Ruszkiewicz A, Waring P (2014) 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 46(6):509–517. doi:10.1097/pat.0000000000000119 PubMedCentralPubMedCrossRef Dvorak K, Aggeler B, Palting J, McKelvie P, Ruszkiewicz A, Waring P (2014) 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 46(6):509–517. doi:10.​1097/​pat.​0000000000000119​ PubMedCentralPubMedCrossRef
22.
Zurück zum Zitat Routhier CA, Mochel MC, Lynch K, Dias-Santagata D, Louis DN, Hoang MP (2013) Comparison of 2 monoclonal antibodies for immunohistochemical detection of BRAF V600E mutation in malignant melanoma, pulmonary carcinoma, gastrointestinal carcinoma, thyroid carcinoma, and gliomas. Hum Pathol 44(11):2563–2570. doi:10.1016/j.humpath.2013.06.018 PubMedCrossRef Routhier CA, Mochel MC, Lynch K, Dias-Santagata D, Louis DN, Hoang MP (2013) Comparison of 2 monoclonal antibodies for immunohistochemical detection of BRAF V600E mutation in malignant melanoma, pulmonary carcinoma, gastrointestinal carcinoma, thyroid carcinoma, and gliomas. Hum Pathol 44(11):2563–2570. doi:10.​1016/​j.​humpath.​2013.​06.​018 PubMedCrossRef
23.
Zurück zum Zitat Ghossein RA, Katabi N, Fagin JA (2013) Immunohistochemical detection of mutated BRAF V600E supports the clonal origin of BRAF-induced thyroid cancers along the spectrum of disease progression. J Clin Endocrinol Metab 98(8):E1414–E1421. doi:10.1210/jc.2013-1408 PubMedCrossRef Ghossein RA, Katabi N, Fagin JA (2013) Immunohistochemical detection of mutated BRAF V600E supports the clonal origin of BRAF-induced thyroid cancers along the spectrum of disease progression. J Clin Endocrinol Metab 98(8):E1414–E1421. doi:10.​1210/​jc.​2013-1408 PubMedCrossRef
24.
Zurück zum Zitat Crescenzi A, Guidobaldi L, Nasrollah N, Taccogna S, Cicciarella Modica DD, Turrini L, Nigri G, Romanelli F, Valabrega S, Giovanella L, Onetti Muda A, Trimboli P (2014) Immunohistochemistry for BRAF(V600E) antibody VE1 performed in core needle biopsy samples identifies mutated papillary thyroid cancers. Horm Metab Res 46(5):370–374. doi:10.1055/s-0034-1368700 PubMedCrossRef Crescenzi A, Guidobaldi L, Nasrollah N, Taccogna S, Cicciarella Modica DD, Turrini L, Nigri G, Romanelli F, Valabrega S, Giovanella L, Onetti Muda A, Trimboli P (2014) Immunohistochemistry for BRAF(V600E) antibody VE1 performed in core needle biopsy samples identifies mutated papillary thyroid cancers. Horm Metab Res 46(5):370–374. doi:10.​1055/​s-0034-1368700 PubMedCrossRef
25.
Zurück zum Zitat Capper D, Preusser M, Habel A, Sahm F, Ackermann U, Schindler G, Pusch S, Mechtersheimer G, Zentgraf H, von Deimling A (2011) Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol 122(1):11–19. doi:10.1007/s00401-011-0841-z PubMedCrossRef Capper D, Preusser M, Habel A, Sahm F, Ackermann U, Schindler G, Pusch S, Mechtersheimer G, Zentgraf H, von Deimling A (2011) Assessment of BRAF V600E mutation status by immunohistochemistry with a mutation-specific monoclonal antibody. Acta Neuropathol 122(1):11–19. doi:10.​1007/​s00401-011-0841-z PubMedCrossRef
26.
Zurück zum Zitat Bullock M, O’Neill C, Chou A, Clarkson A, Dodds T, Toon C, Sywak M, Sidhu SB, Delbridge LW, Robinson BG, Learoyd DL, Capper D, von Deimling A, Clifton-Bligh RJ, Gill AJ (2012) Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma. Endocr Relat Cancer 19(6):779–784. doi:10.1530/erc-12-0239 PubMedCrossRef Bullock M, O’Neill C, Chou A, Clarkson A, Dodds T, Toon C, Sywak M, Sidhu SB, Delbridge LW, Robinson BG, Learoyd DL, Capper D, von Deimling A, Clifton-Bligh RJ, Gill AJ (2012) Utilization of a MAB for BRAF(V600E) detection in papillary thyroid carcinoma. Endocr Relat Cancer 19(6):779–784. doi:10.​1530/​erc-12-0239 PubMedCrossRef
27.
Zurück zum Zitat Fisher KE, Neill SG, Ehsani L, Caltharp SA, Siddiqui MT, Cohen C (2014) Immunohistochemical investigation of BRAF p.V600E mutations in thyroid carcinoma using 2 separate BRAF antibodies. Appl Immunohistochem Mol Morphol 22(8):562–567. doi:10.1097/PAI.0b013e3182a2f75f PubMedCrossRef Fisher KE, Neill SG, Ehsani L, Caltharp SA, Siddiqui MT, Cohen C (2014) Immunohistochemical investigation of BRAF p.V600E mutations in thyroid carcinoma using 2 separate BRAF antibodies. Appl Immunohistochem Mol Morphol 22(8):562–567. doi:10.​1097/​PAI.​0b013e3182a2f75f​ PubMedCrossRef
28.
Zurück zum Zitat Ilie MI, Lassalle S, Long-Mira E, Bonnetaud C, Bordone O, Lespinet V, Lamy A, Sabourin JC, Haudebourg J, Butori C, Guevara N, Peyrottes I, Sadoul JL, Bozec A, Santini J, Capper D, von Deimling A, Emile JF, Hofman V, Hofman P (2014) 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(5):858–866. doi:10.1089/thy.2013.0302 PubMedCrossRef Ilie MI, Lassalle S, Long-Mira E, Bonnetaud C, Bordone O, Lespinet V, Lamy A, Sabourin JC, Haudebourg J, Butori C, Guevara N, Peyrottes I, Sadoul JL, Bozec A, Santini J, Capper D, von Deimling A, Emile JF, Hofman V, Hofman P (2014) 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(5):858–866. doi:10.​1089/​thy.​2013.​0302 PubMedCrossRef
30.
Zurück zum Zitat Rossi ED, Martini M, Capodimonti S, Cenci T, Straccia P, Angrisani B, Ricci C, Lanza P, Lombardi CP, Pontecorvi A, Larocca LM, Fadda G (2014) Analysis of immunocytochemical and molecular BRAF expression in thyroid carcinomas: a cytohistologic institutional experience. Cancer Cytopathol 122(7):527–535. doi:10.1002/cncy.21416 PubMedCrossRef Rossi ED, Martini M, Capodimonti S, Cenci T, Straccia P, Angrisani B, Ricci C, Lanza P, Lombardi CP, Pontecorvi A, Larocca LM, Fadda G (2014) Analysis of immunocytochemical and molecular BRAF expression in thyroid carcinomas: a cytohistologic institutional experience. Cancer Cytopathol 122(7):527–535. doi:10.​1002/​cncy.​21416 PubMedCrossRef
32.
Zurück zum Zitat LiVolsi VA, Albores-Saavedra J, Asa SL, Baloch ZW, Sobrinho-Simoes M, Wenig B, DeLellis RA, Cady B, Mazzaferri EL, Hay I, Fagin JA, Weber AL, Caruso P, Voutilainen PE, Franssila KO, Williams ED, Schneider AB, Nikiforov Y, Rabes HM, Akslen L, Ezzat S, Santoro M, Eng C, Harach HR (2004) Papillary carcinoma. In: DeLellis RA, Lloyd RV, Heitz PU, Eng C (eds) Pathology and genetics of tumours of endocrine organs. World Health Organization classification of tumours. IARC Press, Geneva, pp 57–66 LiVolsi VA, Albores-Saavedra J, Asa SL, Baloch ZW, Sobrinho-Simoes M, Wenig B, DeLellis RA, Cady B, Mazzaferri EL, Hay I, Fagin JA, Weber AL, Caruso P, Voutilainen PE, Franssila KO, Williams ED, Schneider AB, Nikiforov Y, Rabes HM, Akslen L, Ezzat S, Santoro M, Eng C, Harach HR (2004) Papillary carcinoma. In: DeLellis RA, Lloyd RV, Heitz PU, Eng C (eds) Pathology and genetics of tumours of endocrine organs. World Health Organization classification of tumours. IARC Press, Geneva, pp 57–66
33.
Zurück zum Zitat American Joint Committee on Cancer, (2010) Thyroid. In: Edge SB, Byrd DR, Compton CC, Fritz AG, Greene FL, Trotti A (eds) AJCC cancer staging manual, vol 41, 7th edn. Springer, New York, pp 87–100CrossRef American Joint Committee on Cancer, (2010) Thyroid. In: Edge SB, Byrd DR, Compton CC, Fritz AG, Greene FL, Trotti A (eds) AJCC cancer staging manual, vol 41, 7th edn. Springer, New York, pp 87–100CrossRef
35.
Zurück zum Zitat Moskaluk CA, Kern SE (1997) Microdissection and polymerase chain reaction amplification of genomic DNA from histological tissue sections. Am J Pathol 150(5):1547–1552PubMedCentralPubMed Moskaluk CA, Kern SE (1997) Microdissection and polymerase chain reaction amplification of genomic DNA from histological tissue sections. Am J Pathol 150(5):1547–1552PubMedCentralPubMed
36.
Zurück zum Zitat Kwak JY, Han KH, Yoon JH, Kim EK, Moon HJ, Kim YL, Park SJ, Choi JR (2012) BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: potential value of real-time PCR. Ann Clin Lab Sci 42(3):258–265PubMed Kwak JY, Han KH, Yoon JH, Kim EK, Moon HJ, Kim YL, Park SJ, Choi JR (2012) BRAFV600E mutation testing in fine needle aspirates of thyroid nodules: potential value of real-time PCR. Ann Clin Lab Sci 42(3):258–265PubMed
37.
Zurück zum Zitat Pu X, Pan Z, Huang Y, Tian Y, Guo H, Wu L, He X, Chen X, Zhang S, Lin T (2013) Comparison of KRAS/BRAF mutations between primary tumors and serum in colorectal cancer: biological and clinical implications. Oncol Lett 5(1):249–254. doi:10.3892/ol.2012.963 PubMedCentralPubMed Pu X, Pan Z, Huang Y, Tian Y, Guo H, Wu L, He X, Chen X, Zhang S, Lin T (2013) Comparison of KRAS/BRAF mutations between primary tumors and serum in colorectal cancer: biological and clinical implications. Oncol Lett 5(1):249–254. doi:10.​3892/​ol.​2012.​963 PubMedCentralPubMed
39.
Zurück zum Zitat McKelvie PA, Chan F, Yu Y, Waring P, Gresshoff I, Farrell S, Williams RA (2013) The prognostic significance of the BRAF V600E mutation in papillary thyroid carcinoma detected by mutation-specific immunohistochemistry. Pathology 45(7):637–644. doi:10.1097/pat.0000000000000008 PubMedCrossRef McKelvie PA, Chan F, Yu Y, Waring P, Gresshoff I, Farrell S, Williams RA (2013) The prognostic significance of the BRAF V600E mutation in papillary thyroid carcinoma detected by mutation-specific immunohistochemistry. Pathology 45(7):637–644. doi:10.​1097/​pat.​0000000000000008​ PubMedCrossRef
40.
Zurück zum Zitat Jung YY, Yoo JH, Park ES, Kim MK, Lee TJ, Cho BY, Chung YJ, Kang KH, Ahn HY, Kim HS (2015) Clinicopathologic correlations of the BRAF(V600E) mutation, BRAF V600E immunohistochemistry, and BRAF RNA in situ hybridization in papillary thyroid carcinoma. Pathol Res Pract 211(2):162–170. doi:10.1016/j.prp.2014.10.005 PubMedCrossRef Jung YY, Yoo JH, Park ES, Kim MK, Lee TJ, Cho BY, Chung YJ, Kang KH, Ahn HY, Kim HS (2015) Clinicopathologic correlations of the BRAF(V600E) mutation, BRAF V600E immunohistochemistry, and BRAF RNA in situ hybridization in papillary thyroid carcinoma. Pathol Res Pract 211(2):162–170. doi:10.​1016/​j.​prp.​2014.​10.​005 PubMedCrossRef
41.
Zurück zum Zitat Toon CW, Walsh MD, Chou A, Capper D, Clarkson A, Sioson L, Clarke S, Mead S, Walters RJ, Clendenning M, Rosty C, Young JP, Win AK, Hopper JL, Crook A, von Deimling A, Jenkins MA, Buchanan DD, Gill AJ (2013) BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol 37(10):1592–1602. doi:10.1097/PAS.0b013e31828f233d PubMedCentralPubMedCrossRef Toon CW, Walsh MD, Chou A, Capper D, Clarkson A, Sioson L, Clarke S, Mead S, Walters RJ, Clendenning M, Rosty C, Young JP, Win AK, Hopper JL, Crook A, von Deimling A, Jenkins MA, Buchanan DD, Gill AJ (2013) BRAFV600E immunohistochemistry facilitates universal screening of colorectal cancers for Lynch syndrome. Am J Surg Pathol 37(10):1592–1602. doi:10.​1097/​PAS.​0b013e31828f233d​ PubMedCentralPubMedCrossRef
42.
Zurück zum Zitat Kim HS, Kim JO, Lee DH, Lee HC, Kim HJ, Kim JH, Jang YS, Lee JM, Kim SY, Kim YS (2011) Factors influencing the detection of the BRAF T1799A mutation in papillary thyroid carcinoma. Oncol Rep 25(6):1639–1644. doi:10.3892/or.2011.1225 PubMed Kim HS, Kim JO, Lee DH, Lee HC, Kim HJ, Kim JH, Jang YS, Lee JM, Kim SY, Kim YS (2011) Factors influencing the detection of the BRAF T1799A mutation in papillary thyroid carcinoma. Oncol Rep 25(6):1639–1644. doi:10.​3892/​or.​2011.​1225 PubMed
43.
Zurück zum Zitat Zimmermann AK, Camenisch U, Rechsteiner MP, Bode-Lesniewska B, Rossle M (2014) Value of immunohistochemistry in the detection of BRAF(V600E) mutations in fine-needle aspiration biopsies of papillary thyroid carcinoma. Cancer Cytopathol 122(1):48–58. doi:10.1002/cncy.21352 PubMedCrossRef Zimmermann AK, Camenisch U, Rechsteiner MP, Bode-Lesniewska B, Rossle M (2014) Value of immunohistochemistry in the detection of BRAF(V600E) mutations in fine-needle aspiration biopsies of papillary thyroid carcinoma. Cancer Cytopathol 122(1):48–58. doi:10.​1002/​cncy.​21352 PubMedCrossRef
46.
Zurück zum Zitat Capper D, Berghoff AS, Magerle M, Ilhan A, Wohrer A, Hackl M, Pichler J, Pusch S, Meyer J, Habel A, Petzelbauer P, Birner P, von Deimling A, Preusser M (2012) Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. Acta Neuropathol 123(2):223–233. doi:10.1007/s00401-011-0887-y PubMedCrossRef Capper D, Berghoff AS, Magerle M, Ilhan A, Wohrer A, Hackl M, Pichler J, Pusch S, Meyer J, Habel A, Petzelbauer P, Birner P, von Deimling A, Preusser M (2012) Immunohistochemical testing of BRAF V600E status in 1,120 tumor tissue samples of patients with brain metastases. Acta Neuropathol 123(2):223–233. doi:10.​1007/​s00401-011-0887-y PubMedCrossRef
47.
Zurück zum Zitat de Biase D, Cesari V, Visani M, Casadei GP, Cremonini N, Gandolfi G, Sancisi V, Ragazzi M, Pession A, Ciarrocchi A, Tallini G (2014) High-sensitivity BRAF mutation analysis: BRAF V600E is acquired early during tumor development but is heterogeneously distributed in a subset of papillary thyroid carcinomas. J Clin Endocrinol Metab 99(8):E1530–E1538. doi:10.1210/jc.2013-4389 PubMedCrossRef de Biase D, Cesari V, Visani M, Casadei GP, Cremonini N, Gandolfi G, Sancisi V, Ragazzi M, Pession A, Ciarrocchi A, Tallini G (2014) High-sensitivity BRAF mutation analysis: BRAF V600E is acquired early during tumor development but is heterogeneously distributed in a subset of papillary thyroid carcinomas. J Clin Endocrinol Metab 99(8):E1530–E1538. doi:10.​1210/​jc.​2013-4389 PubMedCrossRef
48.
Zurück zum Zitat Lassalle S, Hofman V, Ilie M, Butori C, Bozec A, Santini J, Vielh P, Hofman P (2010) Clinical impact of the detection of BRAF mutations in thyroid pathology: potential usefulness as diagnostic, prognostic and theragnostic applications. Curr Med Chem 17(17):1839–1850PubMedCrossRef Lassalle S, Hofman V, Ilie M, Butori C, Bozec A, Santini J, Vielh P, Hofman P (2010) Clinical impact of the detection of BRAF mutations in thyroid pathology: potential usefulness as diagnostic, prognostic and theragnostic applications. Curr Med Chem 17(17):1839–1850PubMedCrossRef
49.
Zurück zum Zitat Giannini R, Ugolini C, Lupi C, Proietti A, Elisei R, Salvatore G, Berti P, Materazzi G, Miccoli P, Santoro M, Basolo F (2007) The heterogeneous distribution of BRAF mutation supports the independent clonal origin of distinct tumor foci in multifocal papillary thyroid carcinoma. J Clin Endocrinol Metab 92(9):3511–3516. doi:10.1210/jc.2007-0594 PubMedCrossRef Giannini R, Ugolini C, Lupi C, Proietti A, Elisei R, Salvatore G, Berti P, Materazzi G, Miccoli P, Santoro M, Basolo F (2007) The heterogeneous distribution of BRAF mutation supports the independent clonal origin of distinct tumor foci in multifocal papillary thyroid carcinoma. J Clin Endocrinol Metab 92(9):3511–3516. doi:10.​1210/​jc.​2007-0594 PubMedCrossRef
53.
Zurück zum Zitat Sheu SY, Schwertheim S, Worm K, Grabellus F, Schmid KW (2007) Diffuse sclerosing variant of papillary thyroid carcinoma: lack of BRAF mutation but occurrence of RET/PTC rearrangements. Mod Pathol 20(7):779–787. doi:10.1038/modpathol.3800797 PubMedCrossRef Sheu SY, Schwertheim S, Worm K, Grabellus F, Schmid KW (2007) Diffuse sclerosing variant of papillary thyroid carcinoma: lack of BRAF mutation but occurrence of RET/PTC rearrangements. Mod Pathol 20(7):779–787. doi:10.​1038/​modpathol.​3800797 PubMedCrossRef
54.
Zurück zum Zitat Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A, Santoro M, Fagin JA, Nikiforov YE (2003) BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 88(11):5399–5404. doi:10.1210/jc.2003-030838 PubMedCrossRef Nikiforova MN, Kimura ET, Gandhi M, Biddinger PW, Knauf JA, Basolo F, Zhu Z, Giannini R, Salvatore G, Fusco A, Santoro M, Fagin JA, Nikiforov YE (2003) BRAF mutations in thyroid tumors are restricted to papillary carcinomas and anaplastic or poorly differentiated carcinomas arising from papillary carcinomas. J Clin Endocrinol Metab 88(11):5399–5404. doi:10.​1210/​jc.​2003-030838 PubMedCrossRef
55.
Zurück zum Zitat Quiros RM, Ding HG, Gattuso P, Prinz RA, Xu X (2005) Evidence that one subset of anaplastic thyroid carcinomas are derived from papillary carcinomas due to BRAF and p53 mutations. Cancer 103(11):2261–2268. doi:10.1002/cncr.21073 PubMedCrossRef Quiros RM, Ding HG, Gattuso P, Prinz RA, Xu X (2005) Evidence that one subset of anaplastic thyroid carcinomas are derived from papillary carcinomas due to BRAF and p53 mutations. Cancer 103(11):2261–2268. doi:10.​1002/​cncr.​21073 PubMedCrossRef
56.
Zurück zum Zitat Hauschild A, Grob JJ, Demidov LV, Jouary T, Gutzmer R, Millward M, Rutkowski P, Blank CU, Miller WH Jr, Kaempgen E, Martin-Algarra S, Karaszewska B, Mauch C, Chiarion-Sileni V, Martin AM, Swann S, Haney P, Mirakhur B, Guckert ME, Goodman V, Chapman PB (2012) Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet 380(9839):358–365. doi:10.1016/s0140-6736(12)60868-x PubMedCrossRef Hauschild A, Grob JJ, Demidov LV, Jouary T, Gutzmer R, Millward M, Rutkowski P, Blank CU, Miller WH Jr, Kaempgen E, Martin-Algarra S, Karaszewska B, Mauch C, Chiarion-Sileni V, Martin AM, Swann S, Haney P, Mirakhur B, Guckert ME, Goodman V, Chapman PB (2012) Dabrafenib in BRAF-mutated metastatic melanoma: a multicentre, open-label, phase 3 randomised controlled trial. Lancet 380(9839):358–365. doi:10.​1016/​s0140-6736(12)60868-x PubMedCrossRef
57.
Zurück zum Zitat Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, Dummer R, Garbe C, Testori A, Maio M, Hogg D, Lorigan P, Lebbe C, Jouary T, Schadendorf D, Ribas A, O’Day SJ, Sosman JA, Kirkwood JM, Eggermont AM, Dreno B, Nolop K, Li J, Nelson B, Hou J, Lee RJ, Flaherty KT, McArthur GA (2011) Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 364(26):2507–2516. doi:10.1056/NEJMoa1103782 PubMedCentralPubMedCrossRef Chapman PB, Hauschild A, Robert C, Haanen JB, Ascierto P, Larkin J, Dummer R, Garbe C, Testori A, Maio M, Hogg D, Lorigan P, Lebbe C, Jouary T, Schadendorf D, Ribas A, O’Day SJ, Sosman JA, Kirkwood JM, Eggermont AM, Dreno B, Nolop K, Li J, Nelson B, Hou J, Lee RJ, Flaherty KT, McArthur GA (2011) Improved survival with vemurafenib in melanoma with BRAF V600E mutation. N Engl J Med 364(26):2507–2516. doi:10.​1056/​NEJMoa1103782 PubMedCentralPubMedCrossRef
Metadaten
Titel
VE1 immunohistochemical detection of the BRAF V600E mutation in thyroid carcinoma: a review of its usefulness and limitations
verfasst von
Jong-In Na
Jo-Heon Kim
Hye-Jeong Kim
Hee-Kyung Kim
Kyung-Sub Moon
Ji-Shin Lee
Jae-Hyuk Lee
Kyung-Hwa Lee
Jong-Tae Park
Publikationsdatum
01.08.2015
Verlag
Springer Berlin Heidelberg
Erschienen in
Virchows Archiv / Ausgabe 2/2015
Print ISSN: 0945-6317
Elektronische ISSN: 1432-2307
DOI
https://doi.org/10.1007/s00428-015-1773-0

Weitere Artikel der Ausgabe 2/2015

Virchows Archiv 2/2015 Zur Ausgabe

Editorial

In this issue

Neu im Fachgebiet Pathologie

Open Access 15.04.2024 | Biomarker | Schwerpunkt: Next Generation Pathology

Molekularpathologische Untersuchungen im Wandel der Zeit

11.04.2024 | Pathologie | Schwerpunkt: Next Generation Pathology

Vergleichende Pathologie in der onkologischen Forschung

Open Access 08.04.2024 | GIST | CME

Gastrointestinale Stromatumoren

Wo stehen wir?

03.04.2024 | Zielgerichtete Therapie | Schwerpunkt: Next Generation Pathology

Personalisierte Medizin in der Onkologie