Department of Neurology, Massachusetts General Hospital, Boston, MA, United States.
Handb Clin Neurol. 2024;200:335-346. doi: 10.1016/B978-0-12-823912-4.00021-9.
Although they are relatively rare, the diagnosis of paraneoplastic neurologic syndromes (PNS) can be aided by the identification of neural autoantibodies in patients' serum and cerebrospinal fluid (CSF). They often clinically manifest as characteristic syndromes, including limbic encephalitis, opsoclonus-myoclonus syndrome, paraneoplastic cerebellar degeneration, and paraneoplastic encephalomyelitis. The antibodies are directed either toward intracellular targets, or epitopes on the cell surface. As compared to cell surface antibodies, intracellular paraneoplastic autoantibodies are more classically associated with cancer, most often lung, breast, thymoma, gynecologic, testicular, and/or neuroendocrine cancers. The malignancies themselves tend to be small and regionally contained, attesting to the strength of the immune system in cancer immunosurveillance. Typically, the intracellular antibodies are not directly pathogenic and tend to be associated with PNS that are poorly responsive to treatment. With some notable exceptions, including patients with PNS associated with testicular cancer, patients with intracellular antibodies are typically older individuals, in their 7th decade of life and beyond. Many of them are current or former smokers. Treatment strategies include tumor removal as well as immunotherapy to treat the concomitant PNS. Newer technologies and the ever-broadening use of cancer immunotherapies are contributing to the continued identification of novel intracellularly targeted autoantibodies.
尽管副肿瘤性神经系统综合征 (PNS) 相对较少见,但通过在患者血清和脑脊液 (CSF) 中识别神经自身抗体,可以辅助诊断 PNS。它们通常以特征性综合征的形式表现出来,包括边缘性脑炎、眼阵挛-肌阵挛综合征、副肿瘤性小脑变性和副肿瘤性脑脊髓炎。抗体针对的是细胞内靶标或细胞表面表位。与细胞表面抗体相比,细胞内副肿瘤自身抗体更常与癌症相关,最常见的是肺癌、乳腺癌、胸腺瘤、妇科癌、睾丸癌和/或神经内分泌癌。这些恶性肿瘤本身往往较小且局限于局部,证明了免疫系统在癌症免疫监视中的强大作用。通常,细胞内抗体不是直接致病的,并且往往与治疗反应不佳的 PNS 相关。除了一些明显的例外,包括与睾丸癌相关的 PNS 患者,具有细胞内抗体的患者通常是年龄较大的个体,年龄在 70 岁及以上。他们中的许多人是当前或曾经的吸烟者。治疗策略包括肿瘤切除以及免疫疗法来治疗伴随的 PNS。新技术和日益广泛使用的癌症免疫疗法正在促进对新型细胞内靶向自身抗体的持续识别。