Department of Clinical Laboratory, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Department of Medical Research Center, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
J Clin Lab Anal. 2022 Nov;36(11):e24726. doi: 10.1002/jcla.24726. Epub 2022 Oct 12.
Anti-melanoma differentiation-associated gene 5 (MDA5)-positive dermatomyositis (MDA5 DM) is significantly associated with interstitial lung disease (ILD), especially rapidly progressive ILD (RPILD) due to poor prognosis, resulting in high mortality rates. However, the pathogenic mechanism of MDA5 DM-RPILD is unclear. Although some MDA5 DM patients have a chronic course of ILD, many do not develop RPILD. Therefore, the related biomarkers for the early diagnosis, disease activity monitoring, and prediction of the outcome of RPILD in MDA5 DM patients should be identified. Blood-based biomarkers are minimally invasive and can be easily detected.
Recent relative studies related to blood biomarkers in PubMed were reviewed.
An increasing number of studies have demonstrated that dysregulated expression of blood biomarkers related to ILD such as ferritin, Krebs von den Lungen-6 (KL-6), surfactant protein-D (SP-D), and cytokines, and some tumor markers in MDA5 DM may provide information in disease presence, activity, treatment response, and prognosis. These studies have highlighted the great potentials of blood biomarker values for MDA5 DM-ILD and MDA5 DM-RPILD. This review provides an overview of recent studies related to blood biomarkers, besides highlighted protein biomarkers, including antibody (anti-MDA5 IgG subclasses and anti-Ro52 antibody), genetic (exosomal microRNAs and neutrophil extracellular traps related to cell-free DNA), and immune cellular biomarkers in MDA5 DM, MDA5 DM-ILD, and MDA5 DM-RPILD patients, hopefully elucidating the pathogenesis of MDA5 DM-ILD and providing information on the early diagnosis, disease activity monitoring, and prediction of the outcome of the ILD, especially RPILD.
Therefore, this review may provide insight to guide treatment decisions for MDA5 DM-RPILD patients and improve outcomes.
抗黑色素瘤分化相关基因 5（MDA5）阳性皮肌炎（MDA5 DM）与间质性肺病（ILD）密切相关，尤其是由于预后不良导致的快速进展性ILD（RPILD），死亡率较高。然而，MDA5 DM-RPILD 的发病机制尚不清楚。尽管一些 MDA5 DM 患者的ILD 呈慢性过程，但许多患者并未发展为 RPILD。因此，需要确定 MDA5 DM 患者中用于 RPILD 的早期诊断、疾病活动监测和预后预测的相关生物标志物。基于血液的生物标志物具有微创性，并且易于检测。
回顾了在 PubMed 上发表的与 MDA5 DM 患者血液生物标志物相关的近期相关研究。
越来越多的研究表明，与 ILD 相关的血液生物标志物如铁蛋白、KL-6、表面活性剂蛋白-D（SP-D）和细胞因子的表达失调，以及 MDA5 DM 中的一些肿瘤标志物，可能为疾病的存在、活动、治疗反应和预后提供信息。这些研究强调了血液生物标志物值在 MDA5 DM-ILD 和 MDA5 DM-RPILD 中的巨大潜力。本综述概述了与血液生物标志物相关的近期研究，除了突出的蛋白质生物标志物外，还包括 MDA5 DM、MDA5 DM-ILD 和 MDA5 DM-RPILD 患者中的抗体（抗 MDA5 IgG 亚类和抗 Ro52 抗体）、遗传（与无细胞 DNA 相关的细胞外小体 microRNAs 和中性粒细胞）和免疫细胞生物标志物，希望阐明 MDA5 DM-ILD 的发病机制，并提供有关早期诊断、疾病活动监测和ILD 特别是 RPILD 预后的信息。
因此，该综述可能为 MDA5 DM-RPILD 患者的治疗决策提供指导，并改善预后。
