The host genetic background of DNA repair mechanisms is an independent predictor of survival in diffuse large B-cell lymphoma

Blood. 2011 Feb 24;117(8):2405-13. doi: 10.1182/blood-2010-07-296244. Epub 2010 Dec 14.

Abstract

Several drugs used for diffuse large B-cell lymphoma (DLBCL) treatment rely on DNA damage for tumor cell killing. We verified the prognostic impact of the host DNA repair genotype in 2 independent cohorts of DLBCL treated with R-CHOP21 (training cohort, 163 cases; validation cohort, 145 cases). Among 35 single nucleotide polymorphisms analyzed in the training series, MLH1 rs1799977 was the sole predicting overall survival. DLBCL carrying the MLH1 AG/GG genotype displayed an increased death risk (hazard ratio [HR] = 3.23; P < .001; q =0 .009) compared with patients carrying the AA genotype. Multivariate analysis adjusted for International Prognostic Index identified MLH1 AG/GG as an independent OS predictor (P < .001). The poor prognosis of MLH1 AG/GG was the result of an increased risk of failing both R-CHOP21 (HR = 2.02; P = .007) and platinum-based second-line (HR = 2.26; P = .044) treatment. Survival analysis in the validation series confirmed all outcomes predicted by MLH1 rs1799977. The effect on OS of MLH1, a component of the DNA mismatch repair system, is consistent with its role in regulating the genotoxic effects of doxorubicin and platinum compounds, which are a mainstay of DLBCL first- and second-line treatment.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics*
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Artificial Intelligence
  • Cyclophosphamide / therapeutic use
  • DNA Repair / genetics*
  • Doxorubicin / therapeutic use
  • Genotype
  • Humans
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Large B-Cell, Diffuse / mortality*
  • MutL Protein Homolog 1
  • Nuclear Proteins / genetics*
  • Pharmacogenetics / methods*
  • Platinum Compounds
  • Polymorphism, Single Nucleotide*
  • Precision Medicine
  • Predictive Value of Tests
  • Prednisone / therapeutic use
  • Prognosis
  • Risk Assessment
  • Survival Rate
  • Vincristine / therapeutic use

Substances

  • Adaptor Proteins, Signal Transducing
  • MLH1 protein, human
  • Nuclear Proteins
  • Platinum Compounds
  • Vincristine
  • Doxorubicin
  • Cyclophosphamide
  • MutL Protein Homolog 1
  • Prednisone

Supplementary concepts

  • CHOP protocol