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<p>The big data derived from major international collaborations now make it possible to validate findings from traditional national patient cohorts in order to demonstrate consistency. In this study, we compared findings in <i>SRSF2</i>-mutated patients of the Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) with the CMML cohort documented in cBioPortal. It has been consistently shown in both CMML cohorts that <i>SRSF2</i> mutations are not associated with shorter overall survival and acute myeloid leukemia-free survival. Regarding phenotypic features, it was found that <i>SRSF2</i> mutations were significantly associated with higher hemoglobin values in the ABCMML and cBioPortal cohorts. The number of platelets was significantly lower in <i>SRSF2</i>-mutated patients in both CMML cohorts, but there were no differences regarding leukocytes and circulating blasts. Data validation using two independent CMML cohorts ensures the quality standards for clinical decision-making.</p>

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Features of SRSF2-mutated patients with chronic myelomonocytic leukemia in a national (ABCMML) and international cohort (cBioPortal)

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2025年6月23日

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  • Marc Tölly,
  • Klaus Geissler

摘要

The big data derived from major international collaborations now make it possible to validate findings from traditional national patient cohorts in order to demonstrate consistency. In this study, we compared findings in SRSF2-mutated patients of the Austrian biodatabase for chronic myelomonocytic leukemia (ABCMML) with the CMML cohort documented in cBioPortal. It has been consistently shown in both CMML cohorts that SRSF2 mutations are not associated with shorter overall survival and acute myeloid leukemia-free survival. Regarding phenotypic features, it was found that SRSF2 mutations were significantly associated with higher hemoglobin values in the ABCMML and cBioPortal cohorts. The number of platelets was significantly lower in SRSF2-mutated patients in both CMML cohorts, but there were no differences regarding leukocytes and circulating blasts. Data validation using two independent CMML cohorts ensures the quality standards for clinical decision-making.