Advancing Molecular MRD Research
Explore the AML mutational landscape with superRCA® Assays
Deciphering the complex mutational landscape of Acute Myeloid Leukemia (AML) is essential for advancing research into Measurable Residual Disease (MRD) and exploring novel therapeutic strategies. superRCA® assays offer ultra-sensitive detection of AML-associated mutations, empowering researchers to investigate MRD dynamics and mutation-driven disease mechanisms in preclinical and translational studies.
This visual highlights the distribution of key genetic alterations in AML, based on findings by Grimwade et al. (Blood), and marks in bold the genes for which on-demand superRCA probes are currently available. These include high-prevalence mutations like NPM1 (~33%), and secondary mutations such as RUNX1, ASXL1 among others.
Key categories:
NPM1 encodes a protein that regulates cell division and apoptosis; mutations disrupt its nuclear localization, promoting leukemic cell survivalMutations in transcription factors like RUNX1 and epigenetic regulators such as IDH1, DNMT3A, and TET2 play critical roles in acute myeloid leukemia (AML)
TP53 is a well-known tumor suppressor gene that regulates cell cycle arrest, DNA repair, and apoptosis in response to cellular stress or DNA damage; In AML, TP53 mutations are associated with a poor prognosis, chemoresistance, and complex karyotypes (abnormal chromosome structures)
Many of these genes are involved in RNA splicing, epigenetic regulation, and chromatin remodeling, reflecting their role in disease progression and clonal evolution; Several of these targets, such as RUNX1, ASXL1, SRSF2, and SF3B1, are supported by on-demand superRCA® probes
Why Use superRCA® Assays for AML Research?
- Ultra-sensitive mutation detection for low-frequency targets
- Customizable and scalable probe design for targeted panels
- Fast turnaround and high specificity ideal for MRD monitoring
- On-demand probe availability for frequently mutated genes in AML
