Papel central del laboratorio en el diagnóstico de un caso de infiltración de sistema nervioso central por mieloma múltiple refractario

Miguel Aliste , Alex Larruzea , Vicente Aguadero , Luz Muñoz , María Elena Ramila , Eugenio Berlanga
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Abstract

Leptomeningeal involvement in multiple myeloma is a rare and serious complication that usually occurs after relapses of the disease. To establish a correct diagnosis, it is necessary to demonstrate, by cytology, the presence of clonal plasma cells in the cerebrospinal fluid.

The clinical laboratory detected this complication in a patient diagnosed with refractory multiple myeloma after analysing a cerebrospinal fluid sample. The patient suffered from several neurological symptoms, such as faecal incontinence and lower limb mobility limitation. Pleocytosis and proteinorachia was initially observed, along with high levels of high-fluorescence cells, which are sometimes associated with malignant cells. The protein electrophoresis and immunofixation of the cerebrospinal fluid confirmed the presence of the monoclonal component, already detected in blood. After processing the sample by flow cytometry it was confirmed that there was infiltration of malignant plasma cells in the central nervous system.

This laboratory played a central and essential role in the diagnosis of this uncommon complication, by the combined use of protein electrophoresis, immunofixation, flow cytometry, and the haematology autoanalyser. This latter included the high fluorescence cells as a promising biomarker in the screening for the presence of tumour cells in biological fluids.

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实验室在诊断顽固性多发性骨髓瘤中枢神经系统浸润病例中的中心作用
多发性骨髓瘤的轻脑膜受累是一种罕见而严重的并发症,通常发生在疾病复发后。为了建立正确的诊断,有必要通过细胞学证明脑脊液中存在克隆浆细胞。临床实验室在分析脑脊液样本后,在诊断为难治性多发性骨髓瘤的患者中发现了这种并发症。患者出现多种神经系统症状,如大便失禁和下肢活动受限。最初观察到细胞增多和蛋白增多,并伴有高水平的高荧光细胞,这有时与恶性细胞有关。脑脊液的蛋白质电泳和免疫固定证实了血液中已经检测到的单克隆成分的存在。经流式细胞术处理后,证实中枢神经系统有恶性浆细胞浸润。该实验室通过结合使用蛋白质电泳、免疫固定、流式细胞术和血液学自动分析仪,在诊断这种罕见并发症方面发挥了核心和重要作用。后者包括高荧光细胞作为筛选生物液体中肿瘤细胞存在的有前途的生物标志物。
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