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Application of a BRAF V600E mutation-specific antibody for the diagnosis of hairy cell leukemia

In recent times BRAF V600E mutations have emerged as a genetic hallmark of hairy cell leukemia (HCL). This specific point mutation is present in virtually all cases of HCL but is exceedingly rare in other peripheral B-cell neoplasms. In this study we investigated the application of a BRAF V600E muta...

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Hauptverfasser: Andrulis, Mindaugas (VerfasserIn) , Penzel, Roland (VerfasserIn) , Weichert, Wilko (VerfasserIn) , Deimling, Andreas von (VerfasserIn) , Capper, David (VerfasserIn)
Dokumenttyp: Article (Journal)
Sprache:Englisch
Veröffentlicht: 2012
In: The American journal of surgical pathology
Year: 2012, Jahrgang: 36, Heft: 12, Pages: 1796-1800
ISSN:1532-0979
DOI:10.1097/PAS.0b013e3182549b50
Online-Zugang:Verlag, Volltext: http://dx.doi.org/10.1097/PAS.0b013e3182549b50
Verlag, Volltext: https://journals.lww.com/ajsp/Fulltext/2012/12000/Application_of_a_BRAF_V600E_Mutation_specific.6.aspx
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Verfasserangaben:Mindaugas Andrulis, Roland Penzel, Wilko Weichert, Andreas von Deimling, and David Capper

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520 |a In recent times BRAF V600E mutations have emerged as a genetic hallmark of hairy cell leukemia (HCL). This specific point mutation is present in virtually all cases of HCL but is exceedingly rare in other peripheral B-cell neoplasms. In this study we investigated the application of a BRAF V600E mutation-specific antibody (clone VE1) to differentiate HCL from HCL mimics, such as HCL variant and splenic marginal zone lymphoma. A total of 52 routinely processed formalin-fixed paraffin-embedded tissue specimens were investigated (bone marrow, n=46; spleen, n=6) for expression of V600E-mutated BRAF protein. All 32 cases of HCL were scored positive, and all non-HCL cases were scored negative. In 28 of 30 HCL cases the presence of a BRAF V600E mutation could be confirmed by direct sequencing, whereas no BRAF mutations were detected among 20 HCL mimics. We further screened 228 mature B-cell neoplasms with VE1 and detected 1 positive case of chronic lymphocytic leukemia. Sequencing confirmed the presence of a BRAF V600E mutation. In conclusion, we demonstrate that VE1 immunohistochemistry can be used to reliably differentiate HCL from HCL-mimicking entities. This on-slide technique might be particularly helpful in interpreting challenging biopsies with low tumor content. 
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650 4 |a Biopsy 
650 4 |a Diagnosis, Differential 
650 4 |a DNA Mutational Analysis 
650 4 |a Exons 
650 4 |a Humans 
650 4 |a Immunohistochemistry 
650 4 |a Leukemia, Hairy Cell 
650 4 |a Point Mutation 
650 4 |a Predictive Value of Tests 
650 4 |a Proto-Oncogene Proteins B-raf 
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