GENYO Centre for Genomics and Oncological Research: Pfizer - University of Granada - Andalusian Government, Avenida de la Ilustración 114, P.T.S., 18016 Granada, Spain.
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Francesco Sforza 35, Milan 20122, Italy.
Nat Rev Rheumatol. 2018 Jan 24;14(2):75-93. doi: 10.1038/nrrheum.2017.220.
Autoimmune rheumatic diseases pose many problems that have, in general, already been solved in the field of cancer. The heterogeneity of each disease, the clinical similarities and differences between different autoimmune rheumatic diseases and the large number of patients that remain without a diagnosis underline the need to reclassify these diseases via new approaches. Knowledge about the molecular basis of systemic autoimmune diseases, along with the availability of bioinformatics tools capable of handling and integrating large volumes of various types of molecular data at once, offer the possibility of reclassifying these diseases. A new taxonomy could lead to the discovery of new biomarkers for patient stratification and prognosis. Most importantly, this taxonomy might enable important changes in clinical trial design to reach the expected outcomes or the design of molecularly targeted therapies. In this Review, we discuss the basis for a new molecular taxonomy for autoimmune rheumatic diseases. We highlight the evidence surrounding the idea that these diseases share molecular features related to their pathogenesis and development and discuss previous attempts to classify these diseases. We evaluate the tools available to analyse and combine different types of molecular data. Finally, we introduce PRECISESADS, a project aimed at reclassifying the systemic autoimmune diseases.
自身免疫性风湿病带来了许多问题,这些问题在癌症领域已经得到了一定程度的解决。每种疾病的异质性、不同自身免疫性风湿病之间的临床相似性和差异以及大量未得到诊断的患者,都突显了需要通过新方法对这些疾病进行重新分类的必要性。对系统性自身免疫性疾病分子基础的了解,以及能够同时处理和整合大量不同类型分子数据的生物信息学工具的可用性,为这些疾病的重新分类提供了可能性。新的分类法可能会发现用于患者分层和预后的新生物标志物。最重要的是,这种分类法可能会促使临床试验设计发生重要变化,以达到预期的结果,或设计针对分子靶点的治疗方法。在这篇综述中,我们讨论了为自身免疫性风湿病建立新的分子分类法的基础。我们强调了这些疾病在发病机制和发展方面存在与分子特征相关的证据,并讨论了之前对这些疾病进行分类的尝试。我们评估了可用于分析和组合不同类型分子数据的工具。最后,我们介绍了 PRECISESADS 项目,该项目旨在对系统性自身免疫性疾病进行重新分类。