Our assay for FLT3-ITD detection and monitoring, for which I developed the accompanying analysis program getITD, was published in Leukemia!

Internal tandem duplications of the FLT3 gene (FLT3-ITDs) are one of the most common adverse risk aberrations in acute myeloid leukemia (AML). Because the presence of these mutations is associated with an increased risk of relapse, patients could benefit from long-term monitoring during and after treatment to detect any residual disease early on. This so-called measurable residual disease (MRD) monitoring would enable an early clinical intervention prior to any impending relapse. For example, therapy could be re-initiated, intensified or changed to prevent full-blown disease recurrence.

Respective assays have in fact been described and established for other mutations which are similarly common in AML. For the FLT3-ITD, however, no suitable assay was known: Their insertion site and length is variable that their exact sequence actually differs widely between patients. Patient-specific designs, on the other hand, are too time consuming and expensive for clinical routine. Therefore, we developed a novel assay, based on the Illumina next-generation sequencing (NGS) technology and the accompanying analysis program getITD.

In our letter to Leukemia we demonstrate that our assay is highly sensitive, specific, accurate and reproducible. We further optimized the wet-lab protocol and the accompanying analysis program getITD in such a way that no manual analysis is required to guarantee that results are also objective and thus applicable in a clinical setting. getITD has since been published to github where it is freely available for download, inspection and use.