Technical advances in the measurement of residual disease in acute myeloid leukemia

Gregory W. Roloff, Catherine Lai, Christopher S. Hourigan, Laura W. Dillon

Research output: Contribution to journalReview articlepeer-review


Outcomes for those diagnosed with acute myeloid leukemia (AML) remain poor. It has been widely established that persistent residual leukemic burden, often referred to as measurable or minimal residual disease (MRD), after induction therapy or at the time of hematopoietic stem cell transplant (HSCT) is highly predictive for adverse clinical outcomes and can be used to identify patients likely to experience clinically evident relapse. As a result of inherent genetic and molecular heterogeneity in AML, there is no uniform method or protocol for MRD measurement to encompass all cases. Several techniques focusing on identifying recurrent molecular and cytogenetic aberrations or leukemia-associated immunophenotypes have been described, each with their own strengths and weaknesses. Modern technologies enabling the digital quantification and tracking of individual DNA or RNA molecules, next-generation sequencing (NGS) platforms, and high-resolution imaging capabilities are among several new avenues under development to supplement or replace the current standard of flow cytometry. In this review, we outline emerging modalities positioned to enhance MRD detection and discuss factors surrounding their integration into clinical practice.

Original languageEnglish (US)
Article number87
JournalJournal of Clinical Medicine
Issue number9
StatePublished - Sep 19 2017
Externally publishedYes


  • Acute myeloid leukemia
  • Droplet digital polymerase chain reaction
  • Error-corrected sequencing
  • Imaging
  • Minimal residual disease
  • Next-generation sequencing

ASJC Scopus subject areas

  • General Medicine


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