Myelodysplastic syndromes/neoplasms (MDS) are a heterogeneous group of hematopoietic cancers characterized by recurrent molecular alterations driving the disease pathogenesis with a variable propensity for progression to acute myeloid leukemia (AML). Clinical decision making for MDS relies on appropriate risk stratification at diagnosis, with higher-risk patients requiring more intensive therapy. The conventional clinical prognostic systems including the International Prognostic Scoring System (IPSS) and its revised version (IPSS-R) have dominated the risk stratification of MDS from 1997 until 2022. Concurrently, the use of next-generation sequencing has revolutionized the field by revealing multiple recurrent genetic mutations, which correlate with phenotype and prognosis. Significant efforts have been made to formally incorporate molecular data into prognostic tools to improve proper risk identification and personalize treatment strategies. In this review, we will critically compare the available molecular scoring systems for MDS focusing on areas of progress and potential limitations that can be improved in subsequent revisions of these tools.

骨髓增生异常综合征/肿瘤 (MDS) 是一组异质性造血系统癌症，其特征是反复发生的分子改变驱动疾病发病机制，并具有不同的进展为急性髓系白血病 (AML) 的倾向。MDS 的临床决策依赖于诊断时适当的风险分层，高风险患者需要更强化的治疗。从 1997 年到 2022 年，包括国际预后评分系统 (IPSS) 及其修订版 (IPSS-R) 在内的传统临床预后系统一直主导着 MDS 的风险分层。同时，新一代测序的使用也彻底改变了该领域，它揭示了 MDS 的风险分层。多种反复发生的基因突变，与表型和预后相关。人们已经做出了重大努力，将分子数据正式纳入预后工具，以改进正确的风险识别和个性化治疗策略。在这篇综述中，我们将批判性地比较可用的 MDS 分子评分系统，重点关注进展领域和在这些工具的后续修订中可以改进的潜在局限性。