Identification of the BRAF V600E mutation in Japanese patients with hairy cell leukemia and related diseases using a quenching probe method
Identification of the BRAF V600E mutation in Japanese patients with hairy cell leukemia and related diseases using a quenching probe method
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使用淬灭探针法鉴定日本毛细胞白血病及相关疾病患者的 BRAF V600E 突变
DOI：
10.1007/s12185-018-2506-3
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发表时间：
2018
影响因子：
2.1
通讯作者：
Kimura Shinya
中科院分区：
文献类型：
--
作者：
Itamura Hidekazu;Ide Masaru;Sato Akemi;Sueoka-Aragane Naoko;Sueoka Eisaburo;Nishida Aya;Masunari Taro;Aoki Sadao;Takizawa Jun;Suzumiya Junji;Kimura Shinya
毛细胞白血病 (HCL) 是一种罕见的 B 细胞淋巴恶性肿瘤，很难与其他形态变异区分开来。在日本，HCL 的发生率尚未准确确定。最近的研究表明，BRAF V600E 突变是 HCL 的致病基因事件。我们使用单核苷酸多态性检测系统淬灭探针（QP）法评估了日本 HCL 及相关疾病患者的 BRAF 突变，并评估了日本慢性淋巴细胞白血病及相关疾病患者中 HCL 的发病率。我们在 54 名诊断或疑似患有 HCL 的患者中发现了 18 例 (33.3%) 携带 BRAF 突变。在 BRAF V600E 阳性患者中，7 例仅使用 QP 方法检测，而不是通过直接测序检测，而 11 例使用两种检测均呈阳性。在诊断患有慢性淋巴细胞白血病或相关疾病的日本患者的较大队列中，HCL 的频率为 4%。与未携带 BRAF V600E 突变的患者相比，携带 BRAF V600E 突变的患者出现中性粒细胞减少、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着更高。我们的结果证实，BRAF V600E 阳性 HCL 在日本白血病患者群体中是一种相对罕见的疾病。
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.