Abstract：
UNASSIGNED: In 2022, the WHO and International Consensus Classification (ICC) published diagnostic criteria for myelodysplastic neoplasms (MDSs). We examined the influence of the revised diagnostic criteria on classifying MDSs in a large population.
UNASSIGNED: We retrieved an open-source pre-existing dataset from cBioPortal and included 2,454 patients with MDS in this study. Patients were reclassified based on the new diagnostic 2022 WHO and ICC criteria. Survival analysis was performed using Cox regression to validate the new criteria and to assess risk factors.
UNASSIGNED: Based on the 2022 WHO criteria, 1.4% of patients were reclassified as having AML. The 2022 WHO criteria provide a superior prognostic/diagnostic model to the 2017 WHO criteria (Akaike information criterion, 14,152 vs. 14,516; concordance index, 0.705 vs. 0.681). For classifying MDS with low blast counts and SF3B1 mutation, a variant allele frequency cut-off of 5% (2022 WHO criteria) and the absence of RUNX1 co-mutation (2022 ICC criteria) are diagnostically relevant. For classifying MDSs with mutated TP53, a blast count cut-off of 10% (2022 ICC criteria) and multi-hit TP53 (2022 WHO criteria) are independent risk factors in cases with ≥10% blasts.
UNASSIGNED: Our findings support the refinements of the new WHO criteria. We recommend the complementary use of the new WHO and ICC criteria in classifying SF3B1- and TP53-mutated MDSs for better survival prediction.
UNASSIGNED: We retrieved an open-source pre-existing dataset from cBioPortal and included 2,454 patients with MDS in this study. Patients were reclassified based on the new diagnostic 2022 WHO and ICC criteria. Survival analysis was performed using Cox regression to validate the new criteria and to assess risk factors.
UNASSIGNED: Based on the 2022 WHO criteria, 1.4% of patients were reclassified as having AML. The 2022 WHO criteria provide a superior prognostic/diagnostic model to the 2017 WHO criteria (Akaike information criterion, 14,152 vs. 14,516; concordance index, 0.705 vs. 0.681). For classifying MDS with low blast counts and SF3B1 mutation, a variant allele frequency cut-off of 5% (2022 WHO criteria) and the absence of RUNX1 co-mutation (2022 ICC criteria) are diagnostically relevant. For classifying MDSs with mutated TP53, a blast count cut-off of 10% (2022 ICC criteria) and multi-hit TP53 (2022 WHO criteria) are independent risk factors in cases with ≥10% blasts.
UNASSIGNED: Our findings support the refinements of the new WHO criteria. We recommend the complementary use of the new WHO and ICC criteria in classifying SF3B1- and TP53-mutated MDSs for better survival prediction.
摘要：
■2022年，WHO和国际共识分类（ICC）发布了骨髓增生异常肿瘤（MDS）的诊断标准。我们研究了修订后的诊断标准对大量人群中MDS分类的影响。
■我们从cBioPortal检索了一个开源的预先存在的数据集，在这项研究中包括2,454名MDS患者。根据新的2022年WHO和ICC诊断标准对患者进行了重新分类。使用Cox回归进行生存分析以验证新标准并评估危险因素。
■根据世界卫生组织2022年标准，1.4%的患者被重新分类为AML。2022年世卫组织标准提供了比2017年世卫组织标准更好的预后/诊断模型(Akaike信息标准，14,152vs.14,516；一致性指数，0.705vs.0.681)。对于具有低胚细胞计数和SF3B1突变的MDS进行分类，变异等位基因截断率为5%(2022年WHO标准)和不存在RUNX1共突变(2022年ICC标准)与诊断相关.对于具有突变TP53的MDS进行分类，10%的爆炸计数截止值（2022年ICC标准）和多次击中TP53（2022年WHO标准）是≥10%爆炸病例的独立危险因素。
■我们的发现支持世卫组织新标准的完善。我们建议补充使用新的WHO和ICC标准对SF3B1和TP53突变的MDS进行分类，以更好地预测生存。
■我们从cBioPortal检索了一个开源的预先存在的数据集，在这项研究中包括2,454名MDS患者。根据新的2022年WHO和ICC诊断标准对患者进行了重新分类。使用Cox回归进行生存分析以验证新标准并评估危险因素。
■根据世界卫生组织2022年标准，1.4%的患者被重新分类为AML。2022年世卫组织标准提供了比2017年世卫组织标准更好的预后/诊断模型(Akaike信息标准，14,152vs.14,516；一致性指数，0.705vs.0.681)。对于具有低胚细胞计数和SF3B1突变的MDS进行分类，变异等位基因截断率为5%(2022年WHO标准)和不存在RUNX1共突变(2022年ICC标准)与诊断相关.对于具有突变TP53的MDS进行分类，10%的爆炸计数截止值（2022年ICC标准）和多次击中TP53（2022年WHO标准）是≥10%爆炸病例的独立危险因素。
■我们的发现支持世卫组织新标准的完善。我们建议补充使用新的WHO和ICC标准对SF3B1和TP53突变的MDS进行分类，以更好地预测生存。
