Molecular Diagnostics Unit
The department of Hematology at the Erasmus MC is involved in fundamental, translational and clinical scientific research to unravel biology, improve the diagnosis and treatment of patients with haematological malignancies.
The molecular diagnostic research on hematological malignancies of the molecular diagnostics unit in the department of Hematology has been active since 1995 and has the following general objectives:
- Diagnostics for patients with hematological malignancies (AML, ALL and MPN)
- Prognosis for patients with hematological malignancies (AML and ALL)
- Therapy response assessment for patients with hematological malignancies (APL and CML)
The molecular diagnostics unit focuses on adults with acute myeloid leukemia (AML), acute lymphoid leukemia (ALL) and myeloproliferative disorders (MPN). The presence or absence of various acquired genetic abnormalities (chromosomal translocations, insertion/deletions, point mutations) are determined by using various molecular techniques, such as RT-PCR, RQ-PCR and Sanger sequencing. Large part of the routine molecular diagnostics is already being performed with next generation sequencing (NGS), for others it is in far-reaching development.
In 2016 the molecular diagnostics unit started the analysis of genetic variants that are associated with genetic predisposition towards myeloid malignancies. These analyses are carried out in close collaboration with the department of Clinical Genetics of the Erasmus MC.
An important focus of the molecular diagnostics unit is the further development of the prognosis of haematological malignancies, in particular of adult patients with acute leukemia. The development of the prognosis for adult AML and ALL patients is done in close collaboration with the HOVON (Hemato Oncologie voor Volwassenen Nederland). The HOVON treats AML and ALL patients in large clinical studies, in which the molecular diagnostics and biobanking for AML is carried out centrally by the department of Hematology at the Erasmus MC.
Within CML there are also new developments in molecular prognostics. For example, our unit has a new PCR technique, namely the digital droplet PCR, which can quantify the BCR-ABL1 very accurately and appears to have a prognostic value for predicting a successful treatment stop after use of tyrosine kinase inhibitors (TKI). In a project supported by ZonMw, our study group can offer the test free of charge to internal and external applicants as part of an implementation project. For more information about this project please see: Explanation of digital droplet PCR for BCR-ABL1 as a new predictor for a successful TKI stop in CML.
Using the leukemia-specific abnormalities, the response to therapy is also determined. These response determinations are mainly performed for patients with acute promyelocytic leukemia (APL) and chronic myeloid leukemia (CML). CML response provisions are reported on an international scale.
The molecular diagnostics unit is part of the hemato-oncology laboratory and has a regional function. It is part of the integral diagnostics of hematological malignancies and is very active in the Dutch Network for the Molecular Diagnostics of Hematological Malignancies (MODHEM and SKML).