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NGSAML project

Laatste wijziging: 24 januari 2022

Mutation spectrum and frequency analysis of retrospective acute myeloid leukemia samples by next-generation sequencing: A comparative study of targeted myeloid panels


Principal Investigator: Prof. Dr. Brigitte Maes, Researcher: Dr. Guy Froyen


Myeloid tumor malignancies are a group of clonal bone marrow disorders that affect hematopoietic stem cells function and lineage-specific differentiation. Acute myeloid leukemia (AML) is a chronic blood cancer of myeloid cells characterized by rapid growth of abnormal white blood cells that accumulate in the bone marrow. Although the subtyping of AML is grossly based on morphological features the molecular characterization of these subtypes is crucial for correct diagnosis and prognosis of the tumor, and for therapeutic stratification. About 50% of AML cases harbor translocations that generate fusion genes, which drive the tumor. In the remaining half, mutations have been found in several driver genes but in 25% no causal mutations were detected.


With the recent introduction of next-generation sequencing (NGS) for the massive parallel sequencing of genes it is now feasible to apply this state-of-the-art method in the clinic for broad-range gene analysis of patient samples to identify driver mutations in retrospective AML tumor samples. As myeloid tumor panels are only recently developed for the selective enrichment of mutation hotspot regions in relevant driver genes, our first goal is to compare the efficiency, sensitivity and reproducibility of three myeloid enrichment panels (TruSight Myeloid Sequencing panel from Illumina, the custom Ovation target enrichment panel from NuGen, and the GeneRead DNAseq Targeted Myeloid panel from Qiagen) in 32 selected AML samples with known mutations. We will screen for somatic (hotspot) mutations in about 50 genes (all three panels) as well as fusions of about 40 genes (NuGen only).


The capture method that performs best (uniform, absolute and gene-specific coverage, and analytical sensitivity and specificity), will then be applied to a next set of at least 70 AML tissue samples in order to be able to obtain the most frequent mutations in AML. In case the NuGen system will be chosen the most frequent fusion events will also be checked for.