Transformative Advancement in Acute Myeloid Leukemia Detection and Therapy

by Manuel Costa
AML Detection Assay

An innovative method for identifying acute myeloid leukemia (AML) through the detection of KMT2A gene fusions is poised to significantly improve diagnostic and therapeutic approaches, marking a significant advancement in leukemia research.

The study emphasizes the importance of accurately identifying specific molecular markers in leukemia cells, which can greatly refine the assessment of measurable residual disease (MRD). This development is expected to lead to more informed treatment choices and consequently, better patient outcomes.

A recent publication in The Journal of Molecular Diagnostics by Elsevier highlights a newly developed assay that targets a distinct molecular marker in AML patients. This method could transform the diagnosis and treatment of AML, especially in cases involving KMT2A gene fusions. The assay has the potential to influence treatment decisions, monitor response to therapy, and aid in ongoing disease surveillance.

Each year, approximately 120,000 people worldwide are diagnosed with AML, a rare and aggressive form of blood cancer. Detecting MRD during treatment is crucial for prognosis and guiding treatment strategies. Current MRD detection methods in AML treatment include bone marrow morphology, multiparameter flow cytometry (MPFC), and DNA sequencing.

Morphological assessment can identify leukemic cells only when they constitute 5% of the sample. MPFC offers higher sensitivity (0.01% to 0.001%) but is complex in both implementation and interpretation and lacks standardization across labs. DNA sequencing can detect leukemic cells through their mutation profiles but is costly and can be affected by clonal hematopoiesis in non-leukemic cells.

Significant Progress in Leukemia Research

Grant A. Challen, Ph.D., from the Division of Oncology at the Washington University School of Medicine in St. Louis, notes the significance of oncogenic fusions as disease markers, which are generally absent in healthy cells. Similar tracking methods have already transformed chronic myeloid leukemia (CML) treatment. The KMT2A fusion, a key marker in AML, could similarly aid in sensitive MRD detection, prompting the development of a platform for efficient detection of KMT2A fusions.

The team created a novel droplet digital PCR assay for sensitive detection of KMT2A fusions with its five most common partners. Although there are over 80 known KMT2A fusion partners, the majority involve just five — AF9, AF6, AF4, ELL, and ENL. The assay was validated using human cell lines and patient samples, demonstrating its efficacy in detecting KMT2A fusions.

This method partitions cDNA molecules into microfluidic droplets for analysis with specific primers and probes, producing signals only when fusion transcripts exist. The assay can be expanded to include various oncogenic fusions, enhancing its application in detecting different leukemia types.

Potential Impact on AML Treatment and Future Research

Dr. Challen highlights the assay’s accuracy, noting its lack of false positives in healthy samples and its adaptability for additional oncogenic fusions. This could significantly affect treatment decisions and response evaluations. Determining treatment efficacy is crucial for making critical decisions about therapy intensification or pursuing hematopoietic stem cell transplant.

He emphasizes the assay’s robustness in sensitive KMT2A fusion detection, its practical applicability in disease detection in leukemia patients, and its potential in filling gaps in oncogenic fusion detection. The scalability of the assay allows for broader coverage of oncogenic fusions, symbolizing an improvement in blood cancer detection.

The research, published as “Droplet Digital PCR for Oncogenic KMT2A Fusion Detection” by Andrew L. Young, Hannah C. Davis, and Grant A. Challen on 7 October 2023, was supported by the National Institutes of Health and the Leukemia and Lymphoma Society.

Frequently Asked Questions (FAQs) about AML Detection Assay

What is the new advancement in acute myeloid leukemia (AML) treatment?

A novel assay for detecting AML via KMT2A gene fusions has been developed, promising to improve diagnosis and treatment. This represents a significant leap in leukemia research.

How does the new assay for AML work?

The assay detects KMT2A gene fusions in acute myeloid leukemia patients. It uses droplet digital PCR technology to partition cDNA molecules and identify these fusions with high sensitivity.

What impact does the KMT2A fusion detection have on AML treatment?

Detecting KMT2A fusions accurately can improve the assessment of measurable residual disease (MRD) in AML patients. This leads to better-informed treatment decisions and potentially better patient outcomes.

What are the current methods for detecting measurable residual disease (MRD) in AML?

Current MRD detection methods include bone marrow morphology, multiparameter flow cytometry (MPFC), and DNA sequencing, each with varying degrees of sensitivity and complexity.

How does the new assay improve upon existing AML detection methods?

The new assay offers a more sensitive and specific detection of KMT2A fusions compared to existing methods. It overcomes limitations like lower sensitivity and standardization issues in current methods.

Who led the research for the new AML detection method?

Dr. Grant A. Challen from the Division of Oncology at Washington University School of Medicine in St. Louis was the lead investigator for this research.

What are the implications of this research for future AML treatment and research?

This advancement in AML detection through KMT2A fusion identification could lead to more precise treatment strategies and opens avenues for further research in leukemia treatment methodologies.

More about AML Detection Assay

  • The Journal of Molecular Diagnostics
  • Washington University School of Medicine in St. Louis
  • National Institutes of Health
  • Leukemia and Lymphoma Society
  • Overview of Acute Myeloid Leukemia
  • Advances in Leukemia Research
  • Droplet Digital PCR Technology
  • Bone Marrow Morphology in AML
  • Multiparameter Flow Cytometry (MPFC) in Leukemia Detection
  • DNA Sequencing in Cancer Research
  • Understanding Measurable Residual Disease (MRD)
  • KMT2A Gene Fusions and Leukemia

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Emily Martinez December 25, 2023 - 4:21 am

i’m a bit skeptical, seems like every other day there’s a ‘groundbreaking’ discovery, but how often do they really pan out? hope this one is different.

Sarah Lee December 25, 2023 - 3:42 pm

Its incredible to think about the impact this could have on patients with AML. My uncle had leukemia, and I wish this was available back then.

Kevin Brown December 25, 2023 - 5:15 pm

Does anyone know how soon this test will be available for general use? My sister is currently undergoing treatment for AML.

Jenny Smith December 25, 2023 - 5:20 pm

Wow, this is really a breakthrough in leukemia treatment!! It’s amazing how much progress we’re making in medical science.

Mark Johnson December 25, 2023 - 8:51 pm

I read the article, but I’m still a bit confused about how this new assay is different from the existing ones? Can someone explain in simpler terms?

Tom Anderson December 25, 2023 - 10:42 pm

Great job by Dr. Challen and his team! This kind of research is what saves lives. keep up the good work!


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