Hemato-oncological diagnostics
In the case of abnormalities in peripheral blood (PB) or bone marrow (BM), such as pancytopenia or hyperleukocytosis, with or without the presence of blasts, we perform additional diagnostic testing. This allows leukemia to be confirmed or ruled out. If leukemia is excluded, further bone marrow failure analysis is performed to diagnose congenital bone marrow failure (BMF), severe aplastic anemia (SAA), myelodysplastic syndrome (MDS), or juvenile myelomonocytic leukemia (JMML).
Three teams are involved:
Cytomorphology team, responsible staff member Valérie de Haas: microscopic analysis of blood and bone marrow smears to assess abnormal cells and dysplasia. In cases of bone marrow failure, the bone biopsy is also evaluated histologically by the Pathology team.
Flow Cytometry team, responsible staff member Stefan Nierkens: advanced immunophenotyping to support diagnostics, minimal residual disease (MRD) monitoring during and after therapy, and immune monitoring after stem cell transplantation.
Molecular team, responsible staff member Marco Koudijs: molecular characterization of leukemia and bone marrow failure using RNA sequencing and whole exome sequencing (WES). Collaboration with the Department of Clinical Genetics at UMC Utrecht and Wilhelmina Children’s Hospital ensures comprehensive genetic interpretation. For more information about Clinical Genetics, see the UMC Utrecht website.