Molecular diagnosis of Burkitt's lymphoma

N Engl J Med. 2006 Jun 8;354(23):2431-42. doi: 10.1056/NEJMoa055759.


Background: The distinction between Burkitt's lymphoma and diffuse large-B-cell lymphoma is crucial because these two types of lymphoma require different treatments. We examined whether gene-expression profiling could reliably distinguish Burkitt's lymphoma from diffuse large-B-cell lymphoma.

Methods: Tumor-biopsy specimens from 303 patients with aggressive lymphomas were profiled for gene expression and were also classified according to morphology, immunohistochemistry, and detection of the t(8;14) c-myc translocation.

Results: A classifier based on gene expression correctly identified all 25 pathologically verified cases of classic Burkitt's lymphoma. Burkitt's lymphoma was readily distinguished from diffuse large-B-cell lymphoma by the high level of expression of c-myc target genes, the expression of a subgroup of germinal-center B-cell genes, and the low level of expression of major-histocompatibility-complex class I genes and nuclear factor-kappaB target genes. Eight specimens with a pathological diagnosis of diffuse large-B-cell lymphoma had the typical gene-expression profile of Burkitt's lymphoma, suggesting they represent cases of Burkitt's lymphoma that are difficult to diagnose by current methods. Among 28 of the patients with a molecular diagnosis of Burkitt's lymphoma, the overall survival was superior among those who had received intensive chemotherapy regimens instead of lower-dose regimens.

Conclusions: Gene-expression profiling is an accurate, quantitative method for distinguishing Burkitt's lymphoma from diffuse large-B-cell lymphoma.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, N.I.H., Intramural

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Antineoplastic Combined Chemotherapy Protocols / therapeutic use
  • Bayes Theorem
  • Burkitt Lymphoma / diagnosis*
  • Burkitt Lymphoma / genetics*
  • Burkitt Lymphoma / mortality
  • Burkitt Lymphoma / pathology
  • Child
  • Child, Preschool
  • Diagnosis, Differential
  • Female
  • Follow-Up Studies
  • Gene Expression Profiling*
  • Gene Expression*
  • Genes, MHC Class I
  • Genes, myc
  • Humans
  • In Situ Hybridization, Fluorescence
  • Lymphoma, B-Cell / classification
  • Lymphoma, B-Cell / diagnosis
  • Lymphoma, B-Cell / genetics*
  • Lymphoma, B-Cell / mortality
  • Male
  • Middle Aged
  • NF-kappa B / genetics
  • Oligonucleotide Array Sequence Analysis
  • Survival Analysis
  • Transcription, Genetic
  • Translocation, Genetic


  • NF-kappa B