ASXL1 and BIM germ line variants predict response and identify CML patients with the greatest risk of imatinib failure.

ABSTRACT: Scoring systems used at diagnosis of chronic myeloid leukemia (CML), such as Sokal risk, provide important response prediction for patients treated with imatinib. However, the sensitivity and specificity of scoring systems could be enhanced for improved identification of patients with the highest risk. We aimed to identify genomic predictive biomarkers of imatinib response at diagnosis to aid selection of first-line therapy. Targeted amplicon sequencing was performed to determine the germ line variant profile in 517 and 79 patients treated with first-line imatinib and nilotinib, respectively. The Sokal score and ASXL1 rs4911231 and BIM rs686952 variants were independent predictors of early molecular response (MR), major MR, deep MRs (MR⁴ and MR^4.5), and

SUBMITTER: Marum JE 

PROVIDER: S-EPMC5727850 | biostudies-literature | 2017 Aug

REPOSITORIES: biostudies-literature