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. 2025 Sep;175(11-12):289-295.
doi: 10.1007/s10354-025-01091-x. Epub 2025 Jun 23.

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

Marc Tölly  1 , Klaus Geissler  2
Affiliations

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

Marc Tölly et al. Wien Med Wochenschr. 2025 Sep.

Abstract
in English, German

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.

Die Validierung nationaler Patientenkohorten zur Überprüfung der Datenkonsistenz wird durch umfangreiche Daten aus internationalen Kooperationen ermöglicht. In dieser Studie verglichen wir die Ergebnisse von Patienten mit SRSF2-Mutationen aus der nationalen „Austrian Biodatabase for chronic myelomonocytic leukemia“ (ABCMML) mit jenen von Patienten, die in der internationalen Plattform cBioPortal dokumentiert sind. Eine Konsistenz der Ergebnisse in beiden Patientenkohorten fand sich im Hinblick auf ein nicht unterschiedliches Gesamtüberleben und ein von akuter myeloischer Leukämie (AML) freies Überleben bei Patienten mit oder ohne SRSF2-Mutation. In Bezug auf den Phänotyp zeigte sich, dass sowohl in der ABCMML- als auch in der cBioPortal-Kohorte SRSF2-Mutationen mit höheren Hämoglobinwerten assoziiert waren. Die Thrombozytenwerte waren bei Patienten mit SRSF2-Mutationen in beiden Kohorten mit chronischer myelomonozytärer Leukämie (CMML) vermindert, während es bei Leukozyten und zirkulierende Blasten keine Unterschiede gab. Diese Validierung von Daten in 2 unabhängigen CMML-Kohorten gewährleistet die erforderlichen Qualitätsstandards für klinische Entscheidungsfindungen.

Keywords: SRSF2; Austrian biodatabase for chronic myelomonocytic leukemia; Chronic myelomonocytic leukemia; Mutations; cBioPortal.

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Conflict of interest statement

Conflict of interest: M. Tölly and K. Geissler declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Kaplan–Meier plots for overall survival in CMML patients with and without SRSF2 mutations
Fig. 2
Fig. 2
Kaplan–Meier plots for AML-free survival in CMML patients with and without SRSF2 mutations
Fig. 3
Fig. 3
Boxplots showing the distribution of leukocytes in SRSF2-nonmutated and SRSF2-mutated CMML patients including median values, minimum values, maximum values, and upper and lower quartiles in both study cohorts
Fig. 4
Fig. 4
Boxplots showing the distribution of hemoglobin values in SRSF2-nonmutated and SRSF2-mutated CMML patients including median values, minimum values, maximum values, and upper and lower quartiles in both study cohorts
Fig. 5
Fig. 5
Boxplots showing the distribution of platelets in SRSF2-nonmutated and SRSF2-mutated CMML patients including median values, minimum values, maximum values, and upper and lower quartiles in both study cohorts
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