Steinmetz Tilman, Totzke Uwe, Kasprzak Annika, Schmitz Stephan, Gattermann Norbert, Germing Ulrich
Outpatient Clinics for Hematology and Oncology, Sachsenring 69, 50677, Cologne, Germany.
Totzke & Dreher Scientific (TDS), Basel, Switzerland.
Ann Hematol. 2024 Dec;103(12):4913-4930. doi: 10.1007/s00277-024-05925-3. Epub 2024 Aug 23.
Since the late 1980s, patient registries have played a pivotal role in the elucidation of rare diseases. For myelodysplastic syndromes (MDS), they revealed the disease actually to be diverse rather than rare. Registry data enabled the definition of various MDS subtypes and prognostic scores tailoring therapy. These classifications have been revised and refined several times, and the differential diagnosis of MDS has become increasingly complex. At the same time, the diagnosis has been made more commonly and no longer by specialized centers of expertise only. Consequently, several registries have collected data with different focuses and from different patient subpopulations. The current review presents three MDS registries and their rationale, scope, design, and achievements. All three complement each other and will remain a mainstay to advance the knowledge on MDS as well as to validate the outcomes of clinical trials. However, delineation of subtypes after the most recent WHO and IPC revisions, as well as the determination of the newest risk score M of the International Prognostic Scoring System (IPSS-M), no longer just shift cut-offs but are based on multivariate compilations of highly specific genetic information. This paradigm shift involves challenging registries with respect to the assignment of all patients for whom this information has not yet been available.
自20世纪80年代末以来,患者登记系统在罕见病的阐明中发挥了关键作用。对于骨髓增生异常综合征(MDS),这些系统揭示了该疾病实际上是多样的而非罕见。登记数据使得能够定义各种MDS亚型并制定适合治疗的预后评分。这些分类已经多次修订和完善,MDS的鉴别诊断变得越来越复杂。与此同时,诊断变得更加普遍,不再仅由专业中心进行。因此,几个登记系统收集了不同重点和来自不同患者亚群的数据。本综述介绍了三个MDS登记系统及其基本原理、范围、设计和成果。这三个系统相互补充,仍将是推进MDS知识以及验证临床试验结果的主要支柱。然而,在世界卫生组织(WHO)和国际预后评分委员会(IPC)的最新修订之后对亚型的划分,以及国际预后评分系统(IPSS-M)最新风险评分M的确定,不再仅仅是改变临界值,而是基于高度特异性遗传信息的多变量汇总。这种范式转变给登记系统在尚未获得该信息的所有患者的分配方面带来了挑战。