Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma

This study investigated the sensitivity and specificity of immunohistochemical (IHC) analysis using an anti-BRAF antibody to detect the presence of the BRAF V600E mutation in patients with metastatic melanoma. A total of 100 patients with American Joint Committee on Cancer stage IIIC unresectable or...

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Hauptverfasser: Long, Georgina (VerfasserIn) , Wilmott, James S. (VerfasserIn) , Capper, David (VerfasserIn) , Preusser, Matthias (VerfasserIn) , Zhang, Yuxiao E. (VerfasserIn) , Thompson, John F. (VerfasserIn) , Kefford, Richard F. (VerfasserIn) , Deimling, Andreas von (VerfasserIn) , Scolyer, Richard A. (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: January 2013
In: The American journal of surgical pathology
Year: 2013, Jahrgang: 37, Heft: 1, Pages: 61-65
ISSN:1532-0979
DOI:10.1097/PAS.0b013e31826485c0
Online-Zugang:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1097/PAS.0b013e31826485c0
Verlag, lizenzpflichtig, Volltext: https://journals.lww.com/ajsp/Fulltext/2013/01000/Immunohistochemistry_Is_Highly_Sensitive_and.7.aspx
Volltext
Verfasserangaben:Georgina V. Long, MD, PhD, FRACP, James S. Wilmott, BSc, David Capper, MD, Matthias Preusser, MD, Yuxiao E. Zhang, MBiotech, John F. Thompson, MD, FRACS, FACS, Richard F. Kefford, MBBS, PhD, FRACP, Andreas von Deimling, MD, and Richard A. Scolyer, MD, FRCPA, FRCPath

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520 |a This study investigated the sensitivity and specificity of immunohistochemical (IHC) analysis using an anti-BRAF antibody to detect the presence of the BRAF V600E mutation in patients with metastatic melanoma. A total of 100 patients with American Joint Committee on Cancer stage IIIC unresectable or stage IV melanoma and who underwent tumor DNA BRAF mutation testing were selected. Paraffin-embedded, formalin-fixed melanoma biopsies were analyzed for the BRAF mutation status by independent, blinded observers using both conventional DNA molecular techniques and IHC with the novel BRAF V600E mutant-specific antibody, VE1. The antibody had a sensitivity of 97% (37/38) and a specificity of 98% (58/59) for detecting the presence of a BRAF V600E mutation. Of the BRAF-mutated cases, none of the non-V600E cases (including V600K) stained positive with the antibody (0/11). There were 5 cases with discordant BRAF mutation results. Additional molecular analysis confirmed the immunohistochemically obtained BRAF result in 3 cases, suggesting that the initial molecular testing results were incorrect. Two of these patients would not have received a BRAF inhibitor on the basis of the initial false-negative mutation testing result. Two cases remained discordant. The reported IHC method is an accurate, rapid, and cost-effective method for detecting V600E BRAF mutations in melanoma patients. Clinical use of the V600E BRAF antibody should be a valuable supplement to conventional mutation testing and allow V600E mutant metastatic melanoma patients to be triaged rapidly into appropriate treatment pathways. 
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