Bone marrow evaluation for diagnosis and monitoring of acute myeloid leukemia

Abstract

The diagnosis of acute myeloid leukemia (AML) can be made based on peripheral blood or bone marrow blasts. In this review, we will discuss the role of bone marrow evaluation and peripheral blood monitoring in the diagnosis, management, and follow up of AML patients. For patients with circulating blasts, it is reasonable to perform the necessary studies needed for diagnosis and risk stratification, including multiparametric flow cytometry, cytogenetics, and molecular analysis, on a peripheral blood specimen. The day 14 marrow is used to document hypocellularity in response to induction chemotherapy, but it is unclear if that assessment is necessary as it often does not affect immediate management. Currently, response assessments performed at count recovery for evaluation of remission and measurable residual disease rely on bone marrow sampling. For monitoring of relapse, peripheral blood evaluation may be adequate, but the sensitivity of bone marrow testing is in some cases superior. While bone marrow evaluation can certainly be avoided in particular situations, this cumbersome and uncomfortable procedure currently remains the de facto standard for response assessment.

Keywords: Acute myeloid leukemia; Bone marrow evaluation; Flow cytometry; Measurable residual disease; Morphology.

Figure 1

The possible future landscape for diagnosis and monitoring of acute myeloid leukemia at various time points during treatment and subsequent surveillance. The current schema follows the guidelines of the National Comprehensive Cancer Network and others. In the future, we posit that advances in flow cytometry and sequencing (and possibly imaging) may circumvent our current reliance on morphology and cytogenetics. Though the current sensitivity of bone marrow testing is generally 10-fold higher than in the peripheral blood, many tests may be done on peripheral blood only in the future. Timing of surveillance monitoring for measurable residual disease on the peripheral blood will likely depend on the abnormalities being followed for a particular patient.