A single-tube, sensitive multiplex method for screening of isocitrate dehydrogenase 1 (IDH1) mutations.

摘要

In the 8 April 2010 issue of Blood, we reported characterization of IDH1 mutation in a large cohort of acute myeloid leukemia (AML) patients. Very recently, a series of reports about this mutation in AML have been published in a cluster of manuscripts. As IDH1 mutation brings prognostic information in glioma and possibly AML, identification of IDH1 R132 mutations will bring increasing clinical relevance. Moreover, the mutation seems quite stable and may serve as a marker for monitoring minimal residual disease. Hence, a sensitive and simple method for detecting this mutation will be highly desirable. We here report a very sensitive, single-tube, multiplex polymerase chain reaction (PCR)-based method, which has been verified by direct sequencing method. With this method, we then determined the stability of the R132 mutation in sequential samples of AML and measured the incidence of this mutation in a cohort of patients with myelodysplastic syndrome (MDS). This study has been approved by the Institutional Review Board of the National Taiwan University Hospital.