A practice-oriented genome-profiling study for acute myeloid leukemia using the novel HANDLE system: HM-screen-JAPAN02.

HM-SCREEN-Japan is a multicenter collaborative project in Japan to evaluate the clinical utility of a cancer genome panel in the treatment of acute myeloid leukemia (AML). The HM-SCREEN-JAPAN02 study used the Amoy Myeloid Panel^® with the HANDLE system, which enables efficient and rapid sequencing, as the genomic testing kit. The Amoy Myeloid Panel^® targets 53 genes with established clinical significance or high prevalence. The study analyzed bone marrow fluid or peripheral blood. Multiple time points for submission were allowed to evaluate clonal changes over time. A total of 179 tests/145 patients with one or more pathogenic mutations (23 patients submitted specimens at multiple time points) were included in the analysis. A variety of patterns were detected, including acquisition of new resistance-associated genetic mutations and pathogenic mutations remaining after clinical remission. The median time required for sequencing and annotation was 8 days. TP53 and NRAS mutations were associated with increased risk of death (hazard ratio = 3.98 and 5.50, respectively). In a survey of physicians at the participating centers, 63% reported that the genomic panel was clinically useful, particularly for assessing clinical risk and evaluating indications for hematopoietic stem cell transplantation.