Molecular diagnostics for AML

Chromosomal aberrations contribute to the development of AML. However, half of AML cases do not contain such aberrations and are therefore classified as normal karyotype AML.

Different clinical outcomes of normal karyotype AML has shown that this subgroup of AML is genetically heterogeneous. Therefore the identification of recurrent somatic disease alleles in myeloid neoplasms is increasingly important for diagnostic, prognostic and therapeutic reasons.

Sanquin AML Diagnostic NGS Test

The Sanquin AML Diagnostic NGS Test is a fully validated targeted Next Generation Sequencing (NGS) assay that suits diagnosis in patients suspected to have Acute Myeloid Leukemia (AML). The AML diagnostic test is a combined test of a FLT3-ITD fragment analysis, IDH1/2 ddPCR and two targeted next-generation sequencing (NGS) assays, which are mentioned below.

AML-MDS Panel

The AML Panel has been combined with the MDS panel and encompasses 31 genes covering genes for full exon, partial region, or hot spots depending on the locus of interest. This panel identifies numerous recurrent somatic disease alleles with biologic, prognostic, and therapeutic relevance. The recommendations of the ELN2022 guidelines are included in this panel.

AML Fusion Transcript Panel

The AML Fusion Transcript Panel is suitable to detect the most commonly encountered recurrent fusion transcripts in AML: BCR-ABL1, CBFβ-MYH11, PML-RARA and RUNX1-RUNX1T1 (AML1-ETO) which are associated with distinctive clinicopathological features and prognostic significance (Döhner er al).
Because of the fact that the AML Fusions Transcript Panel is able to detect 18 different BCR-ABL fusions, the panel also gives the opportunity to detect rare BCR-ABL1 transcript in Chronic Myeloid Leukemia, not recognized by the standard RQ-PCR assay.