International Journal of Hematology

DOI: 10.1007/s12185-018-2506-3 Pages: 416-422

Identification of the BRAF V600E mutation in Japanese patients with hairy cell leukemia and related diseases using a quenching probe method

1. Saga University, Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine

2. Oda Hospital, Department of Internal Medicine

3. Saga University, Department of Clinical Laboratory Medicine, Faculty of Medicine

4. Toranomon Hospital, Department of Hematology

5. Chugoku Central Hospital, Department of Hematology

6. Niigata University of Pharmacy and Applied Life Sciences, Department of Pathophysiology, Faculty of Pharmaceutical Sciences

7. Niigata University, Department of Hematology, Endocrinology and Metabolism, Faculty of Medicine

8. Shimane University, Department of Oncology/Hematology, School of Medicine

Correspondence to:
Shinya Kimura
Tel: +81-952-34-2366



Hairy cell leukemia (HCL) is a rare B-cell lymphoid malignancy that is difficult to distinguish from other morphological variants. The frequency of HCL has not been determined accurately in Japan. Recent studies revealed that the BRAF V600E mutation is the causal genetic event in HCL. We assessed the BRAF mutation in Japanese patients with HCL and related diseases using the quenching probe (QP) method, a single-nucleotide polymorphism detection system, and evaluated the incidence rate of HCL among Japanese patients with chronic lymphocytic leukemia, and related diseases. We identified 18 cases (33.3%) harboring the BRAF mutation among 54 patients diagnosed with, or suspected of having HCL. Of BRAF V600E-positive patients, 7 were only detected using the QP method, not by direct sequencing, whereas 11 were positive using both tests. In a larger cohort of Japanese patients diagnosed with chronic lymphoid leukemia or related diseases, the frequency of HCL was 4%. Patients with the BRAF V600E mutation had a significantly higher frequency of neutropenia, thrombocytopenia, and elevated soluble interleukin-2 receptor and common B-cell surface markers than patients without the mutation. Our results confirm that BRAF V600E-positive HCL is a relatively rare disorder in the Japanese leukemia patient population.

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