A practice-oriented genome-profiling study for acute myeloid leukemia using the novel HANDLE system:...

Area of Science:

• Hematology
• Oncology
• Genomics

Background:

• Acute myeloid leukemia (AML) treatment can be improved by understanding its genetic landscape.
• Multicenter collaborative projects are crucial for evaluating novel diagnostic tools in clinical practice.

Purpose of the Study:

• To assess the clinical utility of a cancer genome panel in AML treatment within the HM-SCREEN-Japan project.
• To evaluate the efficiency and speed of genomic testing for AML patients.

Main Methods:

• Utilized the Amoy Myeloid Panel® targeting 53 genes for genomic testing on bone marrow or peripheral blood samples.
• Included 179 tests from 145 AML patients, allowing for multiple time points to track clonal evolution.
• Employed the HANDLE system for rapid sequencing and annotation, with a median turnaround time of 8 days.

Main Results:

• Identified diverse mutation patterns, including acquired resistance mutations and persistent pathogenic mutations post-remission.
• TP53 and NRAS mutations were significantly associated with an increased risk of death (HR=3.98 and 5.50, respectively).
• 63% of physicians found the genomic panel clinically useful for risk assessment and guiding hematopoietic stem cell transplantation decisions.

Conclusions:

• The cancer genome panel demonstrates significant clinical utility in managing AML patients.
• Genomic profiling aids in risk stratification and informs critical treatment decisions, including transplantation.
• Rapid genomic testing facilitates timely clinical management and personalized treatment strategies for AML.