Quantitative PCR on 5 genes reliably identifies CTCL patients with 5% to 99% circulating tumor cells with 90% accuracy

Blood. 2006 Apr 15;107(8):3189-96. doi: 10.1182/blood-2005-07-2813. Epub 2006 Jan 10.

Abstract

We previously identified a small number of genes using cDNA arrays that accurately diagnosed patients with Sézary Syndrome (SS), the erythrodermic and leukemic form of cutaneous T-cell lymphoma (CTCL). We now report the development of a quantitative real-time polymerase chain reaction (qRT-PCR) assay that uses expression values for just 5 of those genes: STAT4, GATA-3, PLS3, CD1D, and TRAIL. qRT-PCR data from peripheral blood mononuclear cells (PBMCs) accurately classified 88% of 17 patients with high blood tumor burden and 100% of 12 healthy controls in the training set using Fisher linear discriminant analysis (FLDA). The same 5 genes were then assayed on 56 new samples from 49 SS patients with blood tumor burdens of 5% to 99% and 69 samples from 65 new healthy controls. The average accuracy over 1000 resamplings was 90% using FLDA and 88% using support vector machine (SVM). We also tested the classifier on 14 samples from patients with CTCL with no detectable peripheral involvement and 3 patients with atopic dermatitis with severe erythroderma. The accuracy was 100% in identifying these samples as non-SS patients. These results are the first to demonstrate that gene expression profiling by quantitative PCR on a selected number of critical genes can be employed to molecularly diagnosis SS.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Dermatitis, Atopic / diagnosis
  • Dermatitis, Atopic / genetics
  • Dermatitis, Atopic / pathology
  • Dermatitis, Exfoliative / diagnosis
  • Dermatitis, Exfoliative / genetics
  • Dermatitis, Exfoliative / pathology
  • Gene Expression Regulation, Leukemic*
  • Humans
  • Predictive Value of Tests
  • Reverse Transcriptase Polymerase Chain Reaction / methods
  • Sezary Syndrome / diagnosis*
  • Sezary Syndrome / genetics
  • Sezary Syndrome / pathology
  • Skin Neoplasms / diagnosis*
  • Skin Neoplasms / genetics
  • Skin Neoplasms / pathology
  • Tumor Burden* / genetics