International Journal of Hematology

, Volume 108, Issue 4, pp 416–422 | Cite as

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

  • Hidekazu Itamura
  • Masaru Ide
  • Akemi Sato
  • Naoko Sueoka-Aragane
  • Eisaburo Sueoka
  • Aya Nishida
  • Taro Masunari
  • Sadao Aoki
  • Jun Takizawa
  • Junji Suzumiya
  • Shinya Kimura
Original Article


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.


BRAF V600E Hairy cell leukemia Low-grade B-cell malignancy Quenching probe Japan 



The authors thank all of the patients and all of the investigators at participating institutions.

Compliance with ethical standards

Conflict of interest

The authors declare no potential conflicts of interest.

Supplementary material

12185_2018_2506_MOESM1_ESM.docx (355 kb)
Supplementary material 1 (DOCX 354 KB)
12185_2018_2506_MOESM2_ESM.docx (14 kb)
Supplementary material 2 (DOCX 14 KB)


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Copyright information

© The Japanese Society of Hematology 2018

Authors and Affiliations

  • Hidekazu Itamura
    • 1
  • Masaru Ide
    • 2
  • Akemi Sato
    • 3
  • Naoko Sueoka-Aragane
    • 1
  • Eisaburo Sueoka
    • 3
  • Aya Nishida
    • 4
  • Taro Masunari
    • 5
  • Sadao Aoki
    • 6
  • Jun Takizawa
    • 7
  • Junji Suzumiya
    • 8
  • Shinya Kimura
    • 1
  1. 1.Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of MedicineSaga UniversitySagaJapan
  2. 2.Department of Internal MedicineOda HospitalKashimaJapan
  3. 3.Department of Clinical Laboratory Medicine, Faculty of MedicineSaga UniversitySagaJapan
  4. 4.Department of HematologyToranomon HospitalTokyoJapan
  5. 5.Department of HematologyChugoku Central HospitalHiroshimaJapan
  6. 6.Department of Pathophysiology, Faculty of Pharmaceutical SciencesNiigata University of Pharmacy and Applied Life SciencesNiigataJapan
  7. 7.Department of Hematology, Endocrinology and Metabolism, Faculty of MedicineNiigata UniversityNiigataJapan
  8. 8.Department of Oncology/Hematology, School of MedicineShimane UniversityIzumoJapan

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