Utilization of a MAB for BRAFV600E detection in papillary thyroid carcinoma

被引：68

作者：

Bullock, M. ^{[1
,2
]}

O'Neill, C.

Chou, A. ^{[3
]}

Clarkson, A. ^{[4
]}

Dodds, T. ^{[4
]}

Toon, C. ^{[4
,8
]}

Sywak, M.

Sidhu, S. B. ^{[1
,2
]}

Delbridge, L. W.

Robinson, B. G. ^{[1
,2
,5
]}

Learoyd, D. L. ^{[1
,2
,5
]}

Capper, D. ^{[6
,7
]}

von Deimling, A. ^{[6
,7
]}

Clifton-Bligh, R. J. ^{[1
,2
,5
,9
]}

Gill, A. J. ^{[4
,8
,9
]}

机构：

[1] Royal N Shore Hosp, Hormones & Canc Grp, Canc Genet Lab, Kolling Inst Med Res, Sydney, NSW 2065, Australia

[2] Royal N Shore Hosp, Dept Endocrine Surg, Sydney, NSW 2065, Australia

[3] St Vincents Hosp, Dept Anat Pathol, SYDPATH, Darlinghurst, NSW 2010, Australia

[4] Royal N Shore Hosp, Dept Anat Pathol, Sydney, NSW 2065, Australia

[5] Royal N Shore Hosp, Dept Endocrinol, Sydney, NSW 2065, Australia

[6] Heidelberg Univ, Inst Pathol, Dept Neuropathol, Heidelberg, Germany

[7] DKFZ, Clin Cooperat Unit Neuropathol, Heidelberg, Germany

[8] Royal N Shore Hosp, No Canc Translat Res Unit, Sydney, NSW 2065, Australia

[9] Univ Sydney, Sydney, NSW 2006, Australia

来源：

关键词：

BRAF V600E MUTATION; PREVALENCE; PREDICTS; CANCER;

D O I：

10.1530/ERC-12-0239

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

Identification of BRAF(V600E) in thyroid neoplasia may be useful because it is specific for malignancy, connotes a worse prognosis, and is the target of novel therapies currently under investigation. Sanger sequencing is the 'gold standard' for mutation detection but is subject to sampling error and requires resources beyond many diagnostic pathology laboratories. In this study, we compared immunohistochemistry (IHC) using a BRAF(V600E) mutation-specific MAB to Sanger sequencing on DNA from formalin-fixed paraffin-embedded tissue, in a well-characterized cohort of 101 papillary thyroid carcinoma (PTC) patients. For all cases, an IHC result was available; however, five cases failed Sanger sequencing. Of the 96 cases with molecular data, 68 (71%) were BRAF(V600E) positive by IHC and 59 (61%) were BRAF(V600E) positive by sequencing. Eleven cases were discordant. One case was negative by IHC and initially positive by sequencing. Repeat sequencing of that sample and sequencing of a macrodissected sample were negative for BRAF(V600E). Of ten cases positive by IHC but negative by sequencing on whole sections, repeat sequencing on macrodissected tissue confirmed the IHC result in seven cases (suggesting that these were false negatives of sequencing on whole sections). In three cases, repeat sequencing on recut tissue remained negative (including using massive parallel sequencing), but these cases demonstrated relatively low neoplastic cellularity. We conclude that IHC for BRAF(V600E) is more sensitive and specific than Sanger sequencing in the routine diagnostic setting and may represent the new gold standard for detection of BRAF(V600E) mutation in PTC. Endocrine-Related Cancer (2012) 19 779-784

引用

页码：779 / 784

页数：6

共 15 条

[1] Correlation between the BRAF V600E Mutation and Tumor Invasiveness in Papillary Thyroid Carcinomas Smaller than 20 Millimeters: Analysis of 1060 Cases [J].