Point mutations of the BCL-6 gene: clinical and prognostic correlation in B-diffuse large cell lymphoma

Leukemia. 2002 Feb;16(2):268-75. doi: 10.1038/sj.leu.2402349.

Abstract

Although point mutations of the 5' noncoding regions of the BCL-6 proto-oncogene are frequently detected in B-diffuse large cell lymphoma (B-DLCL), a thorough analysis of the clinical correlation of these mutations has not been performed to date. In this study, BCL-6 mutations were examined by DNA direct sequencing in 103 patients with B-DLCL. BCL-6 mutations were found in 53/103 patients, including 38/76 treated with standard chemotherapy and 15/27 treated with autologous stem cell transplantation (ASCT) up front. The presence of BCL-6 mutations was correlated with clinical features at diagnosis and outcome. Mutated patients had a significantly higher LDH level (66% vs 38%, P < 0.05), and bulky disease (51% vs 32%, P = 0.05). In the whole series of patients BCL-6 mutations did not affect CR and OS. Patients with BCL-6 mutations tended to have a prolonged 5-years DFS and FFS compared to those without mutations (DFS 82% vs 63%, FFS 63% vs 49%). Among B-DLCL treated with standard chemotherapy, mutated patients showed a significantly improved 5-year DFS (85% vs 61%, P < 0.05) and, notably, the only four relapses observed among mutated patients occurred in less than 8 months. The multivariate regression analysis (P < 0.01) with DFS as endpoint confirmed the independent prognostic value of BCL-6 mutations. There was a trend for 5-year failure-free survival to be better for patients with BCL-6 mutations (63% vs 43%, P = 0.09). In the 27 patients treated with ASCT, BCL-6 mutations did not correlate with outcome. These results suggest that BCL-6 mutations may predict a higher chance of being free of disease in B-DLCL treated with standard chemotherapy. Larger series of patients need to be analyzed to evaluate the clinical relevance of BCL-6 mutations properly.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Antineoplastic Combined Chemotherapy Protocols / administration & dosage
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Bleomycin / administration & dosage
  • Carmustine / administration & dosage
  • Chromosomes, Human, Pair 3 / genetics
  • Cyclophosphamide / administration & dosage
  • Cytarabine / administration & dosage
  • DNA Mutational Analysis
  • DNA, Neoplasm / genetics
  • DNA-Binding Proteins / genetics*
  • Disease-Free Survival
  • Doxorubicin / administration & dosage
  • Etoposide / administration & dosage
  • Female
  • Genes, bcl-2
  • Humans
  • Life Tables
  • Lymphoma, Large B-Cell, Diffuse / drug therapy
  • Lymphoma, Large B-Cell, Diffuse / genetics*
  • Lymphoma, Large B-Cell, Diffuse / mortality
  • Lymphoma, Large B-Cell, Diffuse / pathology
  • Male
  • Melphalan / administration & dosage
  • Methotrexate / administration & dosage
  • Middle Aged
  • Neoplasm Proteins / genetics*
  • Neoplasm Staging
  • Point Mutation*
  • Prednisolone / administration & dosage
  • Prednisone / administration & dosage
  • Prognosis
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins / genetics*
  • Proto-Oncogene Proteins c-bcl-6
  • Proto-Oncogenes*
  • Transcription Factors / genetics*
  • Treatment Outcome
  • Vincristine / administration & dosage

Substances

  • DNA, Neoplasm
  • DNA-Binding Proteins
  • MAS1 protein, human
  • Neoplasm Proteins
  • Proto-Oncogene Mas
  • Proto-Oncogene Proteins
  • Proto-Oncogene Proteins c-bcl-6
  • Transcription Factors
  • Cytarabine
  • Bleomycin
  • Vincristine
  • Etoposide
  • Doxorubicin
  • Cyclophosphamide
  • Prednisolone
  • Melphalan
  • Carmustine
  • Prednisone
  • Methotrexate

Supplementary concepts

  • BEAM regimen
  • CHOP protocol
  • MACOP-B regimen
  • VACOP-B protocol