Carrillo Pilar, Gorría Teresa, Santana Daniel, Sepulveda Maria, Aldecoa Iban, Gonzalez-Farré Blanca, Sanfeliu Esther, Mension Eduard, Cebrecos Isaac, Martínez-Saez Olga, Alonso Imma, Saiz Albert
Institute Clinic of Gynaecology, Obstetrics and Neonatology, Hospital Clinic of Barcelona, Barcelona, Spain.
Department of Medical Oncology, Hospital Clinic of Barcelona and Translational Genomics and Targeted Therapeutics in Solid Tumors, August Pi I Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.
Biomed Hub. 2022 Jan 31;7(1):11-16. doi: 10.1159/000521578. eCollection 2022.
Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory central nervous system disorder that preferentially affects the optic nerve and the spinal cord. Although NMOSD is more commonly an idiopathic autoimmune condition associated with antibodies against aquaporin-4 (AQP4)-IgG, the disease may also occur as a paraneoplastic syndrome in rare instances. In these cases, the expression of AQP4 by the tumor is likely the trigger of the autoimmune response.
We describe the case of a 32-year-old woman who presented with progressive tetraparesis, cranial involvement, respiratory failure, and spinal cord MRI compatible with longitudinally extensive transverse myelitis, few days after being diagnosed with a T3N1M0 triple-negative right breast cancer. Due to the history of concurrent breast cancer and after ruling out metastatic spinal cord involvement, the possibility of a paraneoplastic origin was raised. AQP4-IgG were found in the serum and CSF by cell-based assay, confirming the diagnosis of NMOSD. The patient was treated with corticosteroids, plasma exchange, and rituximab. Concomitantly, breast cancer therapy was started with an adapted neoadjuvant chemotherapy scheme based on carboplatin and paclitaxel. An initial slight improvement slowed down; so, a right mastectomy with lymphadenectomy was performed. Expression of AQP4 was demonstrated in the tumor. The patient presented a significant neurological improvement after combined treatment regaining muscular balance and strength in upper and lower extremities.
NMOSD may have a paraneoplastic origin associated with breast cancer and the importance of its early detection since the combination of tumoral and immunosuppressive therapy may improve the patient's prognosis.
视神经脊髓炎谱系障碍（NMOSD）是一种炎症性中枢神经系统疾病，主要累及视神经和脊髓。虽然NMOSD通常是一种与抗水通道蛋白4（AQP4）-IgG抗体相关的特发性自身免疫性疾病，但在罕见情况下，该疾病也可能作为副肿瘤综合征出现。在这些病例中，肿瘤表达的AQP4可能是自身免疫反应的触发因素。
我们描述了一名32岁女性的病例，该患者在被诊断为T3N1M0三阴性右乳腺癌几天后，出现进行性四肢瘫痪、颅脑受累、呼吸衰竭，脊髓MRI表现符合纵向广泛横贯性脊髓炎。由于同时患有乳腺癌病史，在排除脊髓转移受累后，提出了副肿瘤起源的可能性。通过基于细胞的检测在血清和脑脊液中发现了AQP4-IgG，确诊为NMOSD。患者接受了皮质类固醇、血浆置换和利妥昔单抗治疗。同时，开始采用基于卡铂和紫杉醇的改良新辅助化疗方案进行乳腺癌治疗。最初的轻微改善逐渐减缓；因此，进行了右侧乳房切除术及淋巴结清扫术。肿瘤中证实有AQP4表达。联合治疗后患者神经功能有显著改善，恢复了上下肢的肌肉平衡和力量。
NMOSD可能有与乳腺癌相关的副肿瘤起源，早期检测很重要，因为肿瘤治疗和免疫抑制治疗相结合可能改善患者预后。
