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双重病变:冒烟型向症状性骨髓瘤进展时出现的副肿瘤性肉样瘤病。

Dual pathology: paraneoplastic sarcoidosis emerging at the time of progression from smouldering to symptomatic myeloma.

机构信息

Haematology, University Hospitals of North Midlands NHS Trust, Stoke-on-Trent, UK

Haematology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK.

出版信息

BMJ Case Rep. 2023 Jul 25;16(7):e252917. doi: 10.1136/bcr-2022-252917.

Abstract

Sarcoidosis is a systemic disease of unknown aetiology, which is diagnosed based on the presence of non-caseating granulomas on histology. The occurrence of sarcoidosis or a sarcoidosis-like reaction with malignancy has been recognised for several years. Although it has been established that there is an increased risk of lymphoproliferative disorder with sarcoidosis, the association between multiple myeloma and sarcoidosis has rarely been reported. Here, we report the case of woman in her mid-50s with an established diagnosis of smouldering myeloma, who presented with gradually worsening shortness of breath and fatigue after 15 months of active observation. A CT scan of her thorax showed mediastinal lymphadenopathy and the nodes were metabolically active on positron emission tomography CT scan. Endobronchial ultrasound with transbronchial needle aspiration confirmed the diagnosis of sarcoidosis. Further evaluation showed preserved lung function on spirometry. Blood analysis showed a simultaneous rise in the serum lambda-free light chain level from 377 mg/L at initial diagnosis up to 807 mg/L with the kappa/lambda ratio falling to 0.012. Repeat bone marrow aspirate and trephine biopsy showed a 15%-20% infiltrate of lambda light chain-restricted plasma cells with aberrant cyclin D1 expression and abundant sarcoid-like non-necrotising giant cell granulomata. Thus, a diagnosis of paraneoplastic sarcoidosis was established.

摘要

结节病是一种病因不明的全身性疾病,通过组织学上存在非干酪样肉芽肿来诊断。多年来,人们已经认识到恶性肿瘤中结节病或类似结节病的反应的发生。虽然已经确定结节病与淋巴增生性疾病的风险增加有关,但多发性骨髓瘤与结节病之间的关联很少有报道。在这里,我们报告了一例 50 多岁的女性,患有明确诊断的冒烟型骨髓瘤,在积极观察 15 个月后,出现逐渐加重的呼吸急促和疲劳。她的胸部 CT 扫描显示纵隔淋巴结肿大,正电子发射断层扫描 CT 扫描显示这些淋巴结代谢活跃。支气管内超声检查伴经支气管针吸活检证实了结节病的诊断。进一步评估显示肺功能在肺量计检查中正常。血液分析显示血清游离轻链 lambda 水平同时升高,从初始诊断时的 377mg/L 上升至 807mg/L,kappa/lambda 比值降至 0.012。重复骨髓抽吸和活检显示 lambda 轻链受限浆细胞浸润为 15%-20%,伴有异常 cyclin D1 表达和丰富的类结节病非坏死性巨细胞肉芽肿。因此,诊断为副肿瘤性结节病。

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