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Prognostic impact and mutational landscape of a leukemia stem cell score in adult patients with acute myeloid leukemia

Research Scholar

Marius Bill, physician, Department of Hematology and Oncology, University of Leipzig (Germany).
Clara D. Bloomfield, faculty mentor


  • Hometown: Leipzig, Germany
  • Degrees received: Medical Degree, University of Leipzig, Germany; PhD in organic and medicinal chemistry, University of Leipzig, Germany.

What is the issue or problem addresses in your research?

Acute myeloid leukemia (AML) is a malignant disease characterized by the uncontrolled proliferation of immature cells. The subpopulation of leukemic stem cells (LSCs) initiates disease and causes relapse. Relapse is a major clinical challenge that leads to poor prognosis of adult patients with up to 60% of younger (<60 years) and 85% of older patients failing to attain long-term survival. A better understanding of LSC biology and their prognostic impact is critical to improve patients' outcomes.

What methodology did you use in your research?

We calculated the 17-gene LSC score in 934 AML patients based on whole transcriptome expression data. Additionally, the mutational status of 80 cancer- and leukemia-associated genes (Eisfeld et al. Leukemia 2017;31:2211) was determined using targeted next-generation sequencing. All patients were treated on frontline Cancer and Leukemia Group B/Alliance protocols.

What are the purpose/rationale and implications of your research?

A better understanding of LSCs is important to improve AML patient outcome. We detected distinct mutational differences between patients with a high and low LSC score. Moreover, this score, derived from the expression of stemness-associated genes, has a prognostic impact.