IgG-variant Bing-Neel syndrome diagnosed by detecting <i>MYD88</i> L265P mutation in the cerebrospinal fluid cells
IgG-variant Bing-Neel syndrome diagnosed by detecting <i>MYD88</i> L265P mutation in the cerebrospinal fluid cells
复制标题
通过检测脑脊液细胞中的 <i>MYD88</i> L265P 突变来诊断 IgG 变异型 Bing-Neel 综合征
DOI：
10.11406/rinketsu.62.1493
复制
发表时间：
2021
期刊：
影响因子：
--
通讯作者：
坂田（柳元） 麻実子
中科院分区：
文献类型：
--
作者：
丸山 ゆみ子;小原 直;中村 直哉;千葉 滋;錦井 秀和;松岡 亮太;槇島 健一;栗田 尚樹;日下部 学;横山 泰久;加藤 貴康;坂田（柳元） 麻実子
Bing-Neel综合征（BNS）是淋巴浆细胞性淋巴瘤（LPL）的一种罕见表现，以LPL细胞向中枢神经系统浸润为特征。在这项研究中，我们报告的情况下，BNS，这是通过检测脑脊液（CSF）细胞MYD 88 L265 P突变确诊的患者。1例74岁患者被诊断为IgG变异型LPL。他对利妥昔单抗和苯达莫司汀（RB）治疗取得了非常好的部分反应，并稳定超过5年，但下肢出现缓慢进行性运动障碍。从CSF细胞的形态学分析很难证实BNS。在CSF细胞中检测到MYD 88 L265 P突变后，他随后被诊断为BNS，并接受RB和鞘内化疗治疗，导致临床迅速改善。随着LPL临床过程中神经系统症状的出现，CSF细胞MYD 88 L265 P突变的检测有助于BNS的诊断和治疗。
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.