For patients with acute myeloid leukemia (AML), the timing of molecular testing can enhance patient management decisions and clinical trials recommendations. Researchers highlighted evidence that supports molecular testing at diagnosis, complete remission and relapse.
At diagnosis, gene panel sequencing allows for early identification of NPM1, FLT3, IDH2, SF1, ASXL1, RUNX1 and other poor risk markers. In older patients with AML, these markers can offer better prognostic significance than chronological age. Therefore, the researchers reasoned, identification of these markers would allow the clinician to develop a treatment plan to align with a patient’s treatment goals and with continued monitoring, alter the approach to care throughout the course of the disease.
The researchers also reviewed evidence supporting the use of molecular testing for assessment of minimal residual disease (MRD) at the time of remission. They suggest that, if validated, a standardized MRD measurement in a clinical setting could be effective for determining a patient’s course of therapy. This measurement could help distinguish patients who are at high risk of relapse and appropriate for allogeneic hematopoietic cell transplantation or novel therapies from those patients likely to stay in remission and require less intensive therapy.
At the time of relapse, testing to reassess mutations of a patient’s molecular markers could be used to determine if the patient has mutations that could respond to approved therapies or therapies available in clinical trials.
Based on decreasing cost of next generation sequencing, the authors concluded that assessment of a large number of genes to identify potentially targetable mutations can contribute to patient management and the potential response to a complex disease.
Roloff GW and Griffiths EA, Blood Advances