目的 总结抗Y染色体性别决定区相关高迁移率超家族1(SRY-like high-mobility group superfamily of developmental transcription factors 1,SOX1)抗体相关神经系统副肿瘤综合征(paraneoplastic neurological syndrome,PNS)的临床表现、影像学特征和预后.方法 选取2019年1月至2023年1月首都医科大学附属北京友谊医院抗SOX1抗体相关PNS患者6例,回顾性分析患者的相关资料.结果 6例患者中,男5例、女1例,年龄42～76岁.6例患者中,感觉运动周围神经病合并小细胞肺癌(small cell lung cancer,SCLC)2例、边缘叶脑炎2例、副肿瘤小脑变性1例和Lam-bert-Eaton肌无力综合征合并SCLC 1例.6例患者血清抗SOX1抗体均阳性,其中合并其他抗体阳性1例、合并脑脊液抗SOX1抗体阳性2例.6例患者神经系统症状均早于肿瘤发现前,均于发现抗SOX1抗体后行肿瘤筛查,其中3例SCLC患者进行治疗后病情较稳定;截至随访时间,余3例患者经检查未发现肿瘤(其中病例5随访>2年,病例2和病例4随访<2年),进行治疗后,症状未见明显进展.结论 抗SOX1抗体相关PNS患者存在高度临床异质性,部分患者伴发肿瘤.可增加副肿瘤抗体的检测,以提高早期诊断潜在肿瘤的可能性.
Clinical heterogeneity analysis of anti-SOX1 antibody-related paraneoplastic neurological syndromes
Objective To summarize the clinical manifestations,imaging features and prognosis of anti-SRY-like high-mobility group superfamily of developmental transcription factors 1 (SOX1) antibody-related paraneoplastic neurological syndromes (PNS). Methods A total of six patients with anti-SOX1 antibody-related PNS admitted to Beijing Friendship Hospital,Capital Medical University from January 2019 to January 2023 were selected,and the relavant data were analyzed retrospectively. Results Among the six patients,there were five males and one female,aged from 42 to 76 years. There were two cases of sensory-motor peripheral neuropathy complicated with small cell lung cancer (SCLC),two cases of paraneoplastic limbic encephalitis,one case of paraneoplastic cerebellar degeneration and one case of Lambert-Eaton myasthenic syndrome combplicated with SCLC among the six patients. All the six patients tested positive for serum anti-SOX1 antibodies,including one case with other antibodies,and two cases with anti-SOX1 antibodies in cerebrospinal fluid. The neurological symptoms of the six patients were earlier than the tumor was found,and all of them received tumor screening after the anti-SOX1 antibody was found. Among them,three patients with SCLC were stable after treatment. By the time of follow-up,no tumor was found in the other three patients (case No.5 was followed up for more than two years,case No.2 and case No.4 were followed up for less than two years),and no obvious progress was made in symptoms after treatment. Conclusions Patients with anti-SOX1 antibody-related PNS exhibit significant clinical heterogeneity,and some patients are accompanied by tumors. The detection of paraneoplastic antibodies can be increased to improve the possibility of early diagnosis of potential tumors.
SRY-like high-mobility group superfamily of developmental transcription factors 1 (SOX1)paraneoplastic neurological syndrome (PNS)paraneoplastic cerebellar degeneration (PCD)small cell lung cancer (SCLC)Lambert-Eaton myasthenic syndrome (LEMS)paraneop
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