Clinical significance of TP53, BIRC3, ATM and MAPK-ERK genes in chronic lymphocytic leukaemia: data from the randomised UK LRF CLL4 trial

Leukemia. 2020 Jul;34(7):1760-1774. doi: 10.1038/s41375-020-0723-2. Epub 2020 Feb 3.

Abstract

Despite advances in chronic lymphocytic leukaemia (CLL) treatment, globally chemotherapy remains a central treatment modality, with chemotherapy trials representing an invaluable resource to explore disease-related/genetic features contributing to long-term outcomes. In 499 LRF CLL4 cases, a trial with >12 years follow-up, we employed targeted resequencing of 22 genes, identifying 623 mutations. After background mutation rate correction, 11/22 genes were recurrently mutated at frequencies between 3.6% (NFKBIE) and 24% (SF3B1). Mutations beyond Sanger resolution (<12% VAF) were observed in all genes, with KRAS mutations principally composed of these low VAF variants. Firstly, employing orthogonal approaches to confirm <12% VAF TP53 mutations, we assessed the clinical impact of TP53 clonal architecture. Whilst ≥ 12% VAF TP53mut cases were associated with reduced PFS and OS, we could not demonstrate a difference between <12% VAF TP53 mutations and either wild type or ≥12% VAF TP53mut cases. Secondly, we identified biallelic BIRC3 lesions (mutation and deletion) as an independent marker of inferior PFS and OS. Finally, we observed that mutated MAPK-ERK genes were independent markers of poor OS in multivariate survival analysis. In conclusion, our study supports using targeted resequencing of expanded gene panels to elucidate the prognostic impact of gene mutations.

Publication types

  • Clinical Trial, Phase III
  • Randomized Controlled Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Ataxia Telangiectasia Mutated Proteins / genetics*
  • Baculoviral IAP Repeat-Containing 3 Protein / genetics*
  • Biomarkers, Tumor / genetics*
  • Cohort Studies
  • Cyclophosphamide / administration & dosage
  • Extracellular Signal-Regulated MAP Kinases / genetics
  • Follow-Up Studies
  • Gene Expression Regulation, Neoplastic
  • Humans
  • Leukemia, Lymphocytic, Chronic, B-Cell / drug therapy
  • Leukemia, Lymphocytic, Chronic, B-Cell / genetics
  • Leukemia, Lymphocytic, Chronic, B-Cell / mortality*
  • Leukemia, Lymphocytic, Chronic, B-Cell / pathology
  • MAP Kinase Signaling System / genetics*
  • Mutation*
  • Prognosis
  • Survival Rate
  • Tumor Suppressor Protein p53 / genetics*
  • Vidarabine / administration & dosage
  • Vidarabine / analogs & derivatives

Substances

  • Biomarkers, Tumor
  • TP53 protein, human
  • Tumor Suppressor Protein p53
  • Cyclophosphamide
  • BIRC3 protein, human
  • Baculoviral IAP Repeat-Containing 3 Protein
  • ATM protein, human
  • Ataxia Telangiectasia Mutated Proteins
  • Extracellular Signal-Regulated MAP Kinases
  • Vidarabine
  • fludarabine