Introduction Bing-Neel syndrome (BNS) is a rare and heterogenous manifestation of Waldenström macroglobulinemia (WM) involving central nervous system (CNS) infiltration by malignant lymphoplasmacytic cells. Efforts to standardize diagnostic criteria have improved in recent years, as have treatment options including the use of the Bruton tyrosine kinase inhibitor (BTKI) ibrutinib. Case Presentation Here, we present the case of a 70-year-old male with a remote history of WM previously treated with bendamustine and rituximab, who presented to medical attention with several months of left-sided weakness, headache, and ataxia. Brain magnetic resonance imaging revealed numerous enhancing masses in the bilateral cerebral hemispheres, inferior medulla, and upper cervical spine. Laboratory studies showed serum IgM lambda monoclonal gammopathy and elevated free serum kappa and lambda light chains, while cerebrospinal fluid flow cytometry revealed CD19+ B cells. Stereotactic brain biopsy of a right frontal brain lesion was consistent with lymphoplasmacytic lymphoma, confirmed by a positive MYD88 L265P mutation. He received ibrutinib 420 mg orally daily, and this resulted in appreciable clinical and radiologic responses, which have persisted over a 31-month period. Conclusion The advent of molecularly targeted agents and novel therapies for WM has provided patients and clinicians with additional therapeutic options. The use of BTK inhibitors with their high-level CNS penetrance, in particular, offers a novel way to treat BNS and improve patient overall survival while maintaining a high level of quality of life. We discuss the importance of MYD88 L265P testing in the context of BNS as well as the expanding role of BTKIs in treating this disease.

中文翻译：

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依鲁替尼成功治疗混合弥漫型和肿瘤型 Bing-Neel 综合征。

简介 Bing-Neel 综合征 (BNS) 是华氏巨球蛋白血症 (WM) 的一种罕见且异质性表现，涉及恶性淋巴浆细胞浸润中枢神经系统 (CNS)。近年来，标准化诊断标准的努力有所改善，包括使用布鲁顿酪氨酸激酶抑制剂（BTKI）伊布替尼在内的治疗选择也有所改善。病例介绍 在此，我们介绍一名 70 岁男性的病例，该男性有长期 WM 病史，之前接受过苯达莫司汀和利妥昔单抗治疗，因几个月的左侧无力、头痛和共济失调就医。脑磁共振成像显示双侧大脑半球、下髓质和上颈椎有大量增强肿块。实验室研究显示血清 IgM lambda 单克隆丙种球蛋白病以及游离血清 kappa 和 lambda 轻链升高，而脑脊液流式细胞术显示 CD19+ B 细胞。右额脑病变的立体定向脑活检结果与淋巴浆细胞淋巴瘤一致，并通过阳性 MYD88 L265P 突变证实。他每天口服 420 毫克依鲁替尼，这产生了明显的临床和放射学反应，并持续了 31 个月。结论 分子靶向药物和 WM 新疗法的出现为患者和临床医生提供了额外的治疗选择。特别是，使用具有高中枢神经系统外显率的 BTK 抑制剂，为治疗 BNS 和提高患者总体生存率同时保持高水平的生活质量提供了一种新方法。我们讨论了 MYD88 L265P 测试在 BNS 背景下的重要性以及 BTKI 在治疗这种疾病中的扩大作用。