Application of gene mutation analysis in hematopoietic stem cell transplantation for acute myeloid leukemia

Abstract

 Several chromosomal abnormalities and gene mutations that are involved in the onset and recurrence of acute myeloid leukemia (AML) have been discovered owing to the recent progress in genome analysis. This technology can be used not only for the identification of prognostic factors and minimal residual disease markers but also for the development of novel molecular-targeted drugs. Several new drugs such as first-generation FLT3 inhibitors, IDH1/2 inhibitors, and BCL-2 inhibitors have been developed in Europe and the United States. In addition, second-generation FLT3 inhibitors such as gilteritinib and quizartinib were developed in Japan. These drugs have significantly improved treatment outcomes in AML patients. However, there is still a disparity in drug availability among Europe, the United States, and Japan. Consequently, treatment guidelines in Europe and United States cannot be utilized in Japan. This paper provides guidelines for use of gene diagnosis for prognostic stratification and indication of allogeneic hematopoietic cell transplantation in AML, applicable to Japan.