抗SOX1抗体阳性神经系统副肿瘤综合征的临床研究

Clinical analysis of patients with anti-SOX1 antibody-positive paraneoplastic neurologic syndrome

目的探讨抗Y染色体性别决定区相关高迁移率组盒蛋白1(SOX1)抗体阳性神经系统副肿瘤综合征(PNS)的临床特征、诊疗及预后情况。方法回顾性报道首都医科大学宣武医院神经内科2020年、2021年收治的2例抗SOX1抗体阳性PNS患者的临床资料,并检索PubMed、万方数据知识服务平台、中国知网,收集自1999年1月1日至2021年3月31日发表的关于抗SOX1抗体阳性PNS的文献报道,对已报道的13例抗SOX1抗体阳性PNS患者及本组2例患者的临床资料进行临床特征、诊疗及预后情况的汇总分析。结果15例患者中,男12例,女3例;年龄(59.1±15.1)岁,范围为45~77岁;Lambert-Eaton肌无力综合征7例,边缘叶脑炎4例,副肿瘤性小脑变性3例,自身免疫性舞蹈病1例。15例患者均合并肿瘤,其中肺癌13例(小细胞肺癌8例)、食管隆起处小细胞癌1例、结节硬化亚型霍奇金淋巴瘤1例。14例患者在肿瘤确诊之前出现神经系统症状,肿瘤诊断延迟最长者达1年。13例患者接受治疗,其中10例接受肿瘤治疗、11例接受免疫治疗,11例治疗后神经系统症状好转,2例治疗后无好转。结论抗SOX1抗体阳性PNS的临床表现多样,以Lambert-Eaton肌无力综合征最为多见,其次为边缘叶脑炎、副肿瘤性小脑变性;合并肿瘤中以小细胞肺癌最为多见;其总体预后差,早期诊断并及时治疗原发性肿瘤可能是改善其预后的关键。

Objective To investigate the clinical features,diagnoses,treatments and prognoses of anti-sex-determining region of Y chromosome-related high mobility group box 1(SOX1)antibody-positive paraneoplastic neurologic syndrome(PNS).Methods Clinical data of 2 patients with anti-SOX1 antibody positive PNS admitted to Department of Neurology,Xuanwu Hospital,Capital Medical University in 2020 and 2021 were retrospectively analyzed.Eleven papers about 13 patients with anti-SOX1 antibody positive PNS published from January 1,1999 to March 31,2021 were retrieved from PubMed,Wanfang Data and CNKI.Clinical features,diagnoses,treatments and prognoses of these 15 patients were summarized.Results Twelve males and 3 females were included,with age of(59.1±15.1)years(ranged 45-77 years);7 patients had Lamber-Eaton myasthenic syndrome(LEMS),4 had limbic encephalitis,3 had paraneoplastic cerebellar degeneration,and 1 had autoimmune chorea.All 15 patients had tumors:13 complicated with lung cancer(8 with small cell lung cancer),1 had small cell carcinoma of esophagus,and 1 had nodular sclerosis Hodgkin lymphoma.Fourteen patients developed neurological symptoms before tumor diagnosis,and the longest delay of diagnosis was 1 year.Thirteen patients received treatments:10 received tumor therapy and 11 received immunotherapy;11 patients had improved neurological symptoms and 2 didn't respond to treatments.Conclusion Clinical manifestations of anti SOX1 antibody-positive PNS are various,among which LEMS is the most common type,followed by limbic encephalitis and paraneoplastic cerebellar degeneration;small cell lung cancer is the most common complicated tumor;the overall prognosis is poor;early diagnosis and timely treatment of the primary tumors may be the key to improve the prognosis.