文章：

分子国际预后评分系统在国际共识分类定义的骨髓增生异常综合征患者中的验证

Validation of the molecular international prognostic scoring system in patients with myelodysplastic syndromes defined by international consensus classification

原文发布日期：2023-08-09

DOI: 10.1038/s41408-023-00894-8

类型: Article

开放获取: 是

英文摘要：

Myelodysplastic syndromes (MDS) have varied prognoses and require a risk-adapted treatment strategy for treatment optimization. Recently, a molecular prognostic model (Molecular International Prognostic Scoring System [IPSS-M]) that combines clinical parameters, cytogenetic abnormalities, and mutation topography was proposed. This study validated the IPSS-M in 649 patients with primary MDS (based on the 2022 International Consensus Classification [ICC]) and compared its prognostic power to those of the IPSS and revised IPSS (IPSS-R). Overall, 42.5% of the patients were reclassified and 29.3% were up-staged from the IPSS-R. After the reclassification, 16.9% of the patients may receive different treatment strategies. The IPSS-M had greater discriminative potential than the IPSS-R and IPSS. Patients with high, or very high-risk IPSS-M might benefit from allogeneic hematopoietic stem cell transplantation. IPSS-M, age, ferritin level, and the 2022 ICC categorization predicted outcomes independently. After analyzing demographic and genetic features, complementary genetic analyses, including KMT2A-PTD, were suggested for accurate IPSS-M categorization of patients with ASXL1, TET2, STAG2, RUNX1, SF3B1, SRSF2, DNMT3A, U2AF1, and BCOR mutations and those classified as MDS, not otherwise specified with single lineage dysplasia/multi-lineage dysplasia based on the 2022 ICC. This study confirmed that the IPSS-M can better risk-stratified MDS patients for optimized therapeutic decision-making.
 

摘要翻译： 

骨髓增生异常综合征（MDS）具有异质性的预后，需采用基于风险的治疗策略以实现治疗优化。近期，一种结合临床参数、细胞遗传学异常和突变位点特征的分子预后模型（分子国际预后评分系统 [IPSS-M]）被提出。本研究在649例原发MDS患者（依据2022年国际共识分类 [ICC]）中验证了IPSS-M，并比较其与IPSS及修订版IPSS（IPSS-R）的预后预测能力。总体而言，42.5%的患者被重新分层，29.3%的患者风险分层较IPSS-R升高。重新分层后，16.9%的患者可能获得不同的治疗策略。IPSS-M比IPSS-R和IPSS具有更强的鉴别能力。IPSS-M高风险或极高风险患者或可从异基因造血干细胞移植中获益。IPSS-M、年龄、铁蛋白水平及2022 ICC分类均为独立的预后预测因素。通过分析人口统计学与遗传学特征，建议对携带ASXL1、TET2、STAG2、RUNX1、SF3B1、SRSF2、DNMT3A、U2AF1和BCOR突变，以及依据2022 ICC分类为“MDS，非特指型伴单系/多系发育异常”的患者进行补充遗传学分析（包括KMT2A-PTD检测），以实现准确的IPSS-M风险分层。本研究证实IPSS-M能更精准地对MDS患者进行风险分层，从而优化治疗决策。

原文链接：

Validation of the molecular international prognostic scoring system in patients with myelodysplastic syndromes defined by international consensus classification