NGeneBio patents algorithm for AML FLT3-ITD mutation analysis software

NGeneBio, a Korean next-generation sequencing (NGS) precision diagnostics platform, said Monday that it has filed a patent for the core algorithm of its FLT3-ITD mutation analysis software. The software is a key component of its newly launched NGS-based acute myeloid leukemia (AML) test product, AML FLT-3.

Designed to analyze FLT3 internal tandem duplication mutations in the FMS-like tyrosine kinase 3 gene (FLT3/ITD), the software aims to support personalized treatment for AML, an aggressive hematologic malignancy with a generally poor prognosis.

FLT3-ITD mutations occur in approximately 30 percent of AML patients and are characterized by irregular repeats of three to 400 base pairs. Recognized as a biomarker of poor prognosis, major clinical guidelines recommend genetic testing for this mutation due to its critical role in determining patient outcomes. Detecting minimal residual disease (MRD)—the small number of cancer cells that may persist after chemotherapy or bone marrow transplants—is vital for improving survival rates, which requires highly sensitive mutation analysis techniques.

However, current FLT3-ITD mutation tests often struggle to detect MRD due to its extremely low concentrations. Although several algorithms have been developed to enhance sensitivity using NGS and bioinformatics, challenges remain, including false positives and the potential omission of key mutations when analyzing data at concentrations as low as 0.001 percent—equivalent to one in 100,000 normal blood cells.

NGeneBio said it has addressed these technical limitations through its patented analytical algorithm. According to a company representative, the firm has adopted an amplification-based targeted sequencing method focusing exclusively on generating sequence data from the FLT3 gene region. “By applying our in-house developed, patented analytical algorithm, NGeneBio has minimized false positives and improved accuracy compared to existing testing methods,” the representative stated.

The representative further noted that this new approach offers “significantly enhanced sensitivity,” allowing for not only the qualitative detection of ITD mutations but also for “precise measurement of mutation length and exact occurrence locations.”

NGeneBio CEO Choi Dae-chul said that by registering a patent for the company’s NGS panel for FLT3-ITD detection in 2023 and now filing for a patent on its analytical algorithm, NGeneBio holds intellectual property for the full range of reagents and software that comprise its MRDaccuPanel product. "We plan to apply this patented algorithm across our entire portfolio of NGS-based hematologic cancer diagnostic products to enhance our competitiveness both domestically and internationally,” he said.