Application of a BRAF V600E Mutation-specific Antibody for the Diagnosis of Hairy Cell Leukemia

摘要: 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 HCL but exceedingly rare other peripheral B-cell neoplasms. this study we investigated the application mutation-specific antibody (clone VE1) to differentiate from mimics, such variant and splenic marginal zone lymphoma. A total 52 routinely processed formalin-fixed paraffin-embedded tissue specimens were (bone marrow, n=46; spleen, n=6) for expression V600E-mutated protein. All 32 scored positive, non-HCL negative. 28 30 presence could be confirmed by direct sequencing, whereas no detected among 20 mimics. We further screened 228 mature neoplasms with VE1 1 positive case chronic lymphocytic leukemia. Sequencing mutation. conclusion, demonstrate that immunohistochemistry can used reliably HCL-mimicking entities. on-slide technique might particularly helpful interpreting challenging biopsies low tumor content.