Neurology Unit, Maggiore della Carità Hospital, Department of Translational Medicine, University of Piemonte Orientale, Corso Mazzini 18, 28100, Novara, Italy.
Interdisciplinary Research Center of Autoimmune Diseases (IRCAD), Novara, Italy.
Neurol Sci. 2021 Jun;42(6):2519-2522. doi: 10.1007/s10072-021-05055-y. Epub 2021 Jan 28.
Aquaporin-4 antibody (AQP4-IgG) neuromyelitis optica spectrum disorders (NMOSD) are rare idiopathic autoimmune diseases, presenting with optic neuritis (ON), longitudinally extensive transverse myelitis (LETM), and brainstem syndromes and a prevalence range between 0.5 and 4/100,000. Only 3% to 25% of NMOSD have been described as a paraneoplastic (PN) syndrome (PNNMOSD). Both idiopathic NMOSD (INMOSD) and PNNMOSD cases mostly affect females, but PNNMOSD usually presents with a spinal cord or brainstem involvement in elderly patients. Few cases of both malignancies (for the majority breast or lung cancer) and benign tumors (monoclonal gammopathy) were previously reported. Currently, there is no consensus on treatment approach for PNNMOSD (only surgical removal or surgery combined with chronic immunosuppression). Here, we present a series of three newly diagnosed PNNMOSD cases, who differ from each other for demographic and clinical features, tumor association, long-term treatment, and outcome. We propose that a PN etiology should be considered always whenever a new diagnosis of NMOSD is made, not only in patients over 50 years old or in spinal cord/brainstem lesions presentations. Our findings add to existing evidence and raise awareness on PNNMOSD. We enhance the importance for the clinicians of recognizing tumor symptoms and signs whenever a NMOSD is newly diagnosed.
水通道蛋白 4 抗体（AQP4-IgG）视神经脊髓炎谱系疾病（NMOSD）是罕见的特发性自身免疫性疾病，表现为视神经炎（ON）、长节段横贯性脊髓炎（LETM）和脑干综合征，患病率在 0.5 至 4/100,000 之间。只有 3%至 25%的 NMOSD 被描述为副肿瘤（PN）综合征（PNNMOSD）。特发性 NMOSD（INMOSD）和 PNNMOSD 病例主要影响女性，但 PNNMOSD 通常在老年患者中表现为脊髓或脑干受累。以前曾报道过少数恶性肿瘤（大多数为乳腺癌或肺癌）和良性肿瘤（单克隆丙种球蛋白病）的病例。目前，PNNMOSD 的治疗方法尚无共识（仅手术切除或手术联合慢性免疫抑制）。在这里，我们报告了三例新诊断的 PNNMOSD 病例，它们在人口统计学和临床特征、肿瘤相关性、长期治疗和结局方面存在差异。我们提出，无论在 50 岁以上患者或脊髓/脑干病变表现中，只要新诊断为 NMOSD，就应始终考虑 PN 病因。我们的发现增加了对 PNNMOSD 的现有证据并提高了认识。我们强调了临床医生在新诊断 NMOSD 时识别肿瘤症状和体征的重要性。
