Clinical utility and real-world application of molecular genetic sequencing in the management of patients with acute myeloid leukemia and myelodysplastic syndromes

Abstract

Recurrently mutated genes in acute myeloid leukemia (AML) and myelodysplastic syndromes (MDS) have proven useful in risk stratification and clinical decision-making. Sequencing technologies that detect these genetic mutations are now widely available, though there is variability in the use of such data among hematologists. Molecular genetic sequencing trends were assessed in 470 patients presenting to a single institution with AML or MDS to determine how molecular data impacts clinical management of patients with myeloid malignancies. Patients with AML were more likely to have molecular genetic sequencing performed compared to patients with MDS, and clinicians were more likely to reference molecular data in decision-making for patients with AML. Furthermore, the presence of molecular data was associated with an increased odd of bone marrow transplantation (BMT). This study demonstrates the real-world application of molecular data in the management of myeloid malignancies and also highlights disparities in the use of such data based on diagnosis.

Keywords:

• Myeloid leukemias and dysplasias
• molecular genetics
• prognostication

Acknowledgments

The authors acknowledge the P30CA014520-UW Carbone Cancer Center Support Grant (CCSG) as well as Dr. Aric Hall, Dr. Mark Juckett, and Dr. Jane Churpek for their assistance in developing the study design and data analysis.

Disclosure statement

RJM is a member on an advisory committee for Pfizer. MRL is a consultant for Ultragenyx. LGB and ER have no disclosures. These interests have been disclosed fully to Taylor & Francis, and an approved plan is in place for managing any potential conflicts arising from this involvement.

Data availability statement

The data that supports the findings of this study are available on request from the corresponding author, LGB. The data are not publicly available due to privacy and ethical reasons.