2021年11月5日 · KMT2A partial tandem duplication (KMT2A-PTD), characterized by a large internal duplication spanning 6-8 exons, has been documented in adult AML with a prevalence of 3-10% and is associated with poor outcomes.

2023年11月2日 · KMT2A-PTD (also called MLL-PTD, partial tandem duplication), a non-fusion gene rearrangement, also occurs and serves as an important biomarker for Menin-inhibitors. Traditionally, KMT2A -PTDs are detected by RT-qPCR (quantitative real-time PCR).

2023年11月2日 · Recently, updates in genetic risk classifications introduced novel molecular features, but also excluded aberrations like partial tandem duplications in the lysine (K)-specific methyltransferase 2A ( KMT2A -PTD), formerly associated with adverse prognosis. Furthermore, there is growing evidence that molecular subtypes confer differential prognosis.

KMT2A partial tandem duplication (PTD) involves intragenic duplications within the KMT2A gene and has been associated with acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS). KMT2A PTD cannot be detected by conventional karyotyping or fluorescence in situ hybridization (FISH).

Partial tandem duplication (PTD) of the KMT2A (MLL) gene is detected in approximately 5-10% of cases of acute myeloid leukemia (AML) 1–5 and within cases showing normal karyotype, confers a worse prognosis. 2,6,7 In these patients, the duplications are variable in size and most commonly involve exons 2 or 3, spanning through exon 6 or exons 8 ...

2024年3月22日 · KMT2A fusions and PTDs are traditionally detected by RT-qPCR (quantitative real-time PCR). This study investigates KMT2A PTDs levels in healthy donors and myeloid malignancy samples to establish a threshold to report samples with high PTDs, using next generation sequencing (NGS) with Oncomine TM Myeloid Assay GX v2.

2021年11月1日 · In this study, we developed a targeted RNA-based next-generation sequencing panel, together with single primer enrichment and unique molecular identifiers, to identify KMT2A -PTD as well as AML-related gene fusions and other driver mutations.

KMT2A -PTD undergo complex allelic events associated with advanced disease stage (AML over MDS), progression, and increased PTD expression. KMT2A -PTD detection, quantification, and allelic characterization can be integrated into standard panel-based DNA sequencing tests.

2022年7月26日 · KMT2A partial tandem duplication (KMT2A-PTD) is an adverse risk factor in acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS), a potential therapeutic target, and an attractive marker of measurable residual disease. High initial KMT2A-PTD RNA levels have been linked to poor prognosis, bu …

2023年11月2日 · KMT2A-PTD (also called MLL-PTD, partial tandem duplication), a non-fusion gene rearrangement, also occurs and serves as an important biomarker for Menin-inhibitors. Traditionally, KMT2A -PTDs are detected by RT-qPCR (quantitative real-time PCR).