Maruyama Yumiko, Nishikii Hidekazu, Matsuoka Ryota, Makishima Kenichi, Kurita Naoki, Kusakabe Manabu, Yokoyama Yasuhisa, Kato Takayasu, Sakata-Yanagimoto Mamiko, Obara Naoshi, Nakamura Naoya, Chiba Shigeru
Department of Hematology, University of Tsukuba Hospital.
Department of Hematology, Faculty of Medicine, University of Tsukuba.
Rinsho Ketsueki. 2021;62(10):1493-1498. doi: 10.11406/rinketsu.62.1493.
Bing-Neel syndrome (BNS), which presents with a variety of neurological complications, is a rare manifestation of the lymphoplasmacytic lymphoma (LPL) and is characterized by the infiltration of LPL cells into the central nervous system. In this study, we report the case of a patient with BNS, which was confirmed by detecting MYD88 L265P mutation in the cerebrospinal fluid (CSF) cells. A 74-year-old patient was diagnosed with IgG-variant LPL. He achieved a very good partial response to the treatment with rituximab and bendamustine (RB) and was stable for over 5 years, when presenting a slowly progressive motor deficit in the lower limbs. It was difficult to confirm BNS from morphological analysis of the CSF cells. After detecting MYD88 L265P mutation in the CSF cells, he was subsequently diagnosed with BNS and treated with RB and intrathecal chemotherapy, resulting in rapid clinical improvement. With the onset of neurological manifestation during the clinical course of LPL, the detection of MYD88 L265P mutation in the CSF cells could be helpful for the diagnosis and management of BNS.
宾 - 尼尔综合征（BNS）是淋巴浆细胞淋巴瘤（LPL）的一种罕见表现，伴有多种神经系统并发症，其特征是LPL细胞浸润中枢神经系统。在本研究中，我们报告了一例经脑脊液（CSF）细胞检测到MYD88 L265P突变确诊的BNS患者。一名74岁患者被诊断为IgG变异型LPL。他接受利妥昔单抗和苯达莫司汀（RB）治疗后获得了非常好的部分缓解，并且病情稳定超过5年，之后出现了缓慢进展的下肢运动功能障碍。通过CSF细胞的形态学分析很难确诊BNS。在CSF细胞中检测到MYD88 L265P突变后，他随后被诊断为BNS，并接受了RB和鞘内化疗，临床症状迅速改善。在LPL临床病程中出现神经学表现时，检测CSF细胞中的MYD88 L265P突变可能有助于BNS的诊断和管理。
