毛细胞白血病(HCL)是一种罕见的成熟B细胞淋巴增生性疾病,最常表现为经典的毛细胞白血病。该实体的特征在于惰性过程和BRAFV600E突变的存在。我们报告了一个80岁的男性,有典型的毛细胞白血病病史,他表现出疲劳,头晕,呼吸急促,视觉模糊,和头痛。他最初的诊断是在9年前,他接受了克拉屈滨治疗,pentostatin,还有利妥昔单抗.检查显示白细胞计数升高,具有非典型淋巴细胞,贫血,和血小板减少症.外周血涂片证实HCL复发,大脑的磁共振成像(MRI)显示为弥漫性,大脑的幕上和幕下区域的非增强肿块。他开始接受vemurafenib治疗,随着白细胞计数的改善和血小板计数和血红蛋白的恢复。3个月后大脑的重复MRI显示病变完全消退。Vemurafenib在6个月后停药,骨髓活检显示没有残留毛细胞白血病的证据。文献中关于HCL参与中枢神经系统的报道有限。由于这种情况的罕见,目前尚不清楚哪种治疗方法可以有效控制颅内疾病。我们的报告显示vemurafenib的成功使用,导致中枢神经系统受累的复发性HCL完全缓解。
Hairy cell leukemia (HCL) is a rare mature B-cell lymphoproliferative disorder and most often presents as classic hairy cell leukemia. This entity is characterized by an indolent course and the presence of the BRAF V600E mutation. We report the
case of an 80-year-old man with a history of classical hairy cell leukemia who presented with fatigue, dizziness, shortness of breath, blurring of vision, and headache. His initial diagnosis was 9 years prior, and he received treatments with cladribine, pentostatin, and rituximab. The workup showed an elevated white blood cell count with atypical lymphocytes, anemia, and thrombocytopenia. A peripheral blood smear confirmed HCL relapse, and a magnetic resonance imaging (MRI) of the brain showed diffuse, nonenhancing masses in the supratentorial and infratentorial regions of the brain. He was initiated on treatment with vemurafenib, with improvements in his white blood cell count and a recovery of his platelet count and hemoglobin. A repeat MRI of the brain after 3 months showed complete resolution of the lesions. Vemurafenib was discontinued after 6 months, with bone marrow biopsy showing no evidence of residual hairy cell leukemia. There have only been limited
reports of HCL involvement in the central nervous system in the literature. Due to the rarity of the condition, it is not clear which treatments can be effective for intracranial disease control. Our report shows the successful use of vemurafenib, resulting in complete remission of relapsed HCL with CNS involvement.