Open AccessMolecular Risk Stratification using Next-generation Sequencing in Acute Myeloid Leukemia
Author(s) -
JaeSook Ahn
Publication year - 2021
Publication title -
the korean journal of medicine
Language(s) - English
Resource type - Journals
eISSN - 2289-0769
pISSN - 1738-9364
DOI - 10.3904/kjm.2021.96.6.493
Subject(s) - npm1 , cebpa , myeloid leukemia , idh1 , risk stratification , minimal residual disease , dna sequencing , myeloid , oncology , leukemia , medicine , gene , biology , cancer research , computational biology , bioinformatics , mutation , genetics , karyotype , chromosome
Chromosomal abnormalities are an important prognostic factor in cases of acute myeloid leukemia (AML). Molecular mutations have been reported to contribute to the pathogenesis and prognosis of AML. Next-generation sequencing (NGS) has revolutionized the speed and cost of genomic sequencing and enables the parallel analysis of many genes for molecular risk stratification. The molecular mutations currently included in risk stratification at AML diagnosis are c-kit, FLT3-ITD, NPM1, CEBPA (biallelic), RUNX1, ASLX1, and TP53. The importance of screening for mutations has been further emphasized by introducing novel therapeutic targets for molecular mutations, such as FLT3-TKD, IDH1, and IDH2. Molecular mutations are also used to evaluate measurable residual disease during treatment and to select the intensity of the treatment during consolidation and follow-up. Pretreatment leukemic marrow and blood should be stored at a biobank to perform NGS analysis in cases of AML at diagnosis. Samples from various time points during and after treatment should be obtained and stored under appropriate conditions.