Towards a novel classification of human malignancies based on gene expression patterns

J Pathol. 2001 Sep;195(1):41-52. doi: 10.1002/path.889.


As a result of progress on the human genome project, approximately 19 000 genes have been identified and tens of thousands more tentatively identified as partial fragments of genes termed expressed sequence tags (ESTs). Most of these genes are only partially characterized and the functions of the vast majority are as yet unknown. It is likely that many genes that might be useful for diagnosis and/or prognostication of human malignancies have yet to be recognized. The advent of cDNA microarray technology now allows the efficient measurement of expression for almost every gene in the human genome in a single overnight hybridization experiment. This genomic scale approach has begun to reveal novel molecular-based sub-classes of tumours in breast carcinoma, colon carcinoma, lymphoma, leukaemia, and melanoma. In several instances, gene microarray analysis has already identified genes that appear to be useful for predicting clinical behaviour. This review discusses some recent findings using gene microarray technology and describes how this and related technologies are likely to contribute to the emergence of novel molecular classifications of human malignancies.

Publication types

  • Review

MeSH terms

  • Breast Neoplasms / genetics
  • Cluster Analysis
  • DNA Fingerprinting
  • Expressed Sequence Tags*
  • Gene Expression Regulation, Neoplastic
  • Genetic Markers
  • Genome, Human
  • Humans
  • Lymphoma / genetics
  • Neoplasms / classification*
  • Neoplasms / genetics*
  • Oligonucleotide Array Sequence Analysis*
  • Prognosis


  • Genetic Markers