PDF(Pubmed)
Abstract：
Hairy cell leukemia (HCL) is a rare lymphoproliferative disorder classically presenting with cytopenia and recurrent infections but atypical manifestations such as bone lesions, skin lesions and effusion have been described. We report here an unusual meningeal localization in a 33 years old man who presented with headache, hand paresthesia and visual symptoms. Brain magnetic resonance imaging revealed an occipital meningeal lesion. Diagnostic explorations led to the diagnosis of classical HCL with meningeal localization. After treatment by cladribine and rituximab the patient rapidly improved and is still in complete remission 12 months after end of treatment. The literature review identified 9 other cases of HCL with central nervous system localization (CNS) presenting with brain parenchyma and/or meninges localization. Four out of 9 patients presented with hyperleukocytosis. Most patients experienced good responses with various treatments. Cladribine alone or with rituximab led to complete responses similar to our patient. In our patient, molecular biology revealed KLF2 mutations, which implication in the atypical localization could be suspected but would need dedicated studies. In conclusion, CNS localizations of HCL are rare but can be observed and treatment with cladribine alone or with rituximab appears as an effective strategy.
摘要：
毛细胞白血病（HCL）是一种罕见的淋巴增生性疾病，典型地表现为血细胞减少和复发性感染，但不典型的表现，如骨病变，已经描述了皮肤病变和积液。我们在这里报告了一个不寻常的脑膜定位在一个33岁的男人谁提出了头痛，手部感觉异常和视觉症状。脑磁共振成像显示枕骨脑膜病变。诊断探索导致经典HCL的诊断与脑膜定位。在接受克拉屈滨和利妥昔单抗治疗后，患者迅速好转，治疗结束后12个月仍处于完全缓解状态。文献综述确定了9例其他具有中枢神经系统定位（CNS）的HCL，表现为脑实质和/或脑膜定位。9例患者中有4例出现高白细胞增多症。大多数患者在各种治疗下都有良好的反应。克拉屈滨单独或与利妥昔单抗一起导致与我们的患者相似的完全反应。在我们的病人身上，分子生物学揭示了KLF2突变，可能怀疑非典型本地化的含义，但需要专门的研究。总之,HCL的CNS定位很少见，但可以观察到，单独使用克拉屈滨或利妥昔单抗治疗似乎是一种有效的策略。
