AACR 2024 Poster: Using NGS to Detect KMT2A (MLL) Fusions and KMT2A-PTDs

Abstract
KMT2A (MLL) fusions and KMT2A-PTD (partial tandem duplication) are important biomarkers in myeloid malignancies. This biomarker has garnered much interest, as ongoing clinical trial research has shown that acute leukemias harboring KMT2A rearrangements may be susceptible to small molecule inhibitors that target the KMT2A-menin protein complex¹.

While KMT2A rearrangements are traditionally detected by RT-qPCR (quantitative real-time PCR), a recent study presented at the American Association of Cancer Research (AACR) Annual Meeting 2024 has demonstrated the use of next-generation sequencing (NGS) with the Oncomine Myeloid Assay GX v2 on the Ion Torrent Genexus System to detect KMT2A fusions in myeloid malignancy samples and KMT2A-PTDs in both healthy donors and myeloid malignancy samples.

Detection of KMT2A-PTDs in healthy donor and myeloid malignant samples using next generation sequencing
Jiajie Huang, et al.