Highly Sensitive Detection of IDH2 Mutations in Acute Myeloid Leukemia.

ABSTRACT: Acute myeloid leukemia is a heterogeneous hematological disease, characterized by karyotypic and molecular alterations. Mutations in IDH2 have a role in diagnosis and as a minimal residue disease marker. Often the variant allele frequency during follow up is less than 20%, which represents the limit of detection of Sanger sequencing. Therefore, the development of sensitive methodologies to identify IDH2 mutations might help to monitor patients' response to therapy. We compared three different methods to identify and monitor IDH2 mutations in patients' specimens. Performances of PNA-PCR clamping, droplet digital PCR and Sanger for IDH2 status identification were evaluated and compared in 96 DNA patients' specimens. In contrast with Sanger sequencing, our results highlighted the concordance

SUBMITTER: Petiti J 

PROVIDER: S-EPMC7019902 | biostudies-literature | 2020 Jan

REPOSITORIES: biostudies-literature