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BRAF V600E-Negative Hairy Cell Leukaemia
Stephen E Langabeer1, David O'Brien, Anthony M McElligott
1Cancer Molecular Diagnostics, Central Pathology Laboratory, St. James's Hospital, Dublin 8, Ireland.
Case Reports in Hematology
|May 9, 2013
Summary
The BRAF V600E mutation is common in hairy cell leukemia. This study presents a rare case lacking this mutation, impacting diagnosis and treatment strategies.
Area of Science:
- Hematology
- Oncology
- Molecular Biology
Background:
- The BRAF V600E mutation is a key driver in hairy cell leukemia (HCL).
- This mutation is detected in nearly all classical HCL cases.
- Understanding BRAF V600E status is crucial for HCL diagnosis and treatment.
Purpose of the Study:
- To report a case of HCL with a classical presentation but without the BRAF V600E mutation.
- To discuss the diagnostic and therapeutic implications of this rare finding.
Main Methods:
- Case study documentation.
- Clinical, morphological, immunophenotypic, and cytochemical analysis.
- BRAF V600E mutation testing (specific method not detailed in abstract).
Main Results:
- A case of HCL with classical features was identified.
- The BRAF V600E mutation was notably absent in this patient.
- This finding contrasts with the high prevalence of the mutation in HCL.
Conclusions:
- Hairy cell leukemia can occur without the BRAF V600E mutation.
- The absence of BRAF V600E has potential implications for diagnostic classification.
- Therapeutic strategies may need to consider BRAF V600E status, even in its absence.
