Itamura Hidekazu, Ide Masaru, Sato Akemi, Sueoka-Aragane Naoko, Sueoka Eisaburo, Nishida Aya, Masunari Taro, Aoki Sadao, Takizawa Jun, Suzumiya Junji, Kimura Shinya
Division of Hematology, Respiratory Medicine and Oncology, Department of Internal Medicine, Faculty of Medicine, Saga University, 5-1-1 Nabeshima, Saga, 849-8501, Japan.
Department of Internal Medicine, Oda Hospital, Kashima, Japan.
Int J Hematol. 2018 Oct;108(4):416-422. doi: 10.1007/s12185-018-2506-3. Epub 2018 Jul 24.
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.
毛细胞白血病（HCL）是一种罕见的B细胞淋巴恶性肿瘤，难以与其他形态学变异相区分。在日本，HCL的发病率尚未得到准确测定。最近的研究表明，BRAF V600E突变是HCL的致病基因事件。我们使用淬灭探针（QP）法（一种单核苷酸多态性检测系统）评估了日本HCL患者及相关疾病患者的BRAF突变情况，并评估了日本慢性淋巴细胞白血病患者及相关疾病患者中HCL的发病率。我们在54例被诊断为或疑似患有HCL的患者中，鉴定出18例（33.3%）携带BRAF突变。在BRAF V600E阳性患者中，7例仅通过QP法检测到，直接测序未检测到，而11例两种检测均为阳性。在一个更大的日本慢性淋巴细胞白血病或相关疾病患者队列中，HCL的发病率为4%。与未发生突变的患者相比，携带BRAF V600E突变的患者中性粒细胞减少、血小板减少以及可溶性白细胞介素-2受体和常见B细胞表面标志物升高的频率显著更高。我们的结果证实，BRAF V600E阳性的HCL在日本白血病患者群体中是一种相对罕见的疾病。
