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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| Main Authors: | , , , , |
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| Format: | Article (Journal) |
| Language: | English |
| Published: |
2012
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| In: |
The American journal of surgical pathology
Year: 2012, Volume: 36, Issue: 12, Pages: 1796-1800 |
| ISSN: | 1532-0979 |
| DOI: | 10.1097/PAS.0b013e3182549b50 |
| Online Access: | 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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| Author Notes: | Mindaugas Andrulis, Roland Penzel, Wilko Weichert, Andreas von Deimling, and David Capper |
| Summary: | 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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| Item Description: | Gesehen am 13.06.2018 |
| Physical Description: | Online Resource |
| ISSN: | 1532-0979 |
| DOI: | 10.1097/PAS.0b013e3182549b50 |