Weissenbacher Melanie, Geissler Klaus
Medical School, Sigmund Freud University, Sigmund Freud Platz 3, 1020, Vienna, Austria.
Wien Med Wochenschr. 2025 Jul 22. doi: 10.1007/s10354-025-01099-3.
Big data collected in large international cooperations nowadays allow validation of findings from traditional national patient cohorts for proving consistency. In this study we compared findings in KRAS-mutated patients of the Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) with that from the CMML cohort documented in cBioPortal. It was consistently shown in both CMML cohorts that KRAS mutations were not associated with shorter overall and acute myeloid leukemia (AML)-free survival. In both cohorts, phenotypic features such as leukocytes, hemoglobin, and circulating blasts were not significantly different between patients with and without KRAS mutations. However, the proportion of patients with thrombocytopenia was higher in KRAS-mutated patients in the BIOPORTAL cohort but not in the ABCMML cohort. The percentage of KRAS mutations significantly increased in blast transformation (from 9.8 to 21.7%), as shown in the ABCMML cohort. These data may suggest a pathogenetic role of KRAS mutations in CMML-associated AML.
如今，在大型国际合作中收集的大数据能够验证来自传统国家患者队列的研究结果，以证明其一致性。在本研究中，我们将奥地利慢性粒单核细胞白血病生物数据库（ABCMML）中KRAS突变患者的研究结果与cBioPortal中记录的CMML队列的结果进行了比较。在两个CMML队列中均一致显示，KRAS突变与较短的总生存期和无急性髓系白血病（AML）生存期无关。在两个队列中，有和没有KRAS突变的患者之间，白细胞、血红蛋白和循环原始细胞等表型特征没有显著差异。然而，BIOPORTAL队列中KRAS突变患者的血小板减少症患者比例较高，而ABCMML队列中则不然。如ABCMML队列所示，在原始细胞转化中KRAS突变的百分比显著增加（从9.8%增至21.7%）。这些数据可能表明KRAS突变在CMML相关AML中具有致病作用。
