Risk-based classification of leukemia by cytogenetic and multiplex molecular methods: Results from a multicenter validation study

Christopher Gocke, J. Mason, L. Brusca, W. Laosinchai-Wolf, C. Higgs, H. Newell, A. Masters, L. Friar, Judith Karp, M. Griffiths, Q. Wei, E. Labourier

Research output: Contribution to journalArticle


Modern management of leukemia and selection of optimal treatment approaches entails the analysis of multiple recurrent cytogenetic abnormalities with independent diagnostic or prognostic value. We report the first multicenter validation of a multiplex molecular assay for 12 relevant fusion transcripts relative to cytogenetic methods. Performance was evaluated using a set of 280 adult and pediatric acute or chronic leukemias representative of the variety of presentations and pre-analytical parameters encountered in the clinical setting. The positive, negative and overall agreements were >98.5% with high concordance at each of the four sites. Positive detection of cases with low blast count or at relapse was consistent with a method sensitivity of 1%. There was 98.7% qualitative agreement with independent reference molecular tests. Apparent false negatives corresponded to rare alternative splicing isoforms not included in the panel. We further demonstrate that clinical sensitivity can be increased by adding those rare variants and other relevant transcripts or submicroscopic abnormalities. We conclude that multiplex RT-PCR followed by liquid bead array detection is a rapid and flexible method attuned to the clinical laboratory workflow, complementing standard cytogenetic methods and generating additional information valuable for the accurate diagnosis, prognosis and subsequent molecular monitoring of leukemia.

Original languageEnglish (US)
Article numbere78
JournalBlood Cancer Journal
Issue number7
Publication statusPublished - Jul 2012



  • Diagnosis
  • Leukemia
  • Molecular classification
  • Multiplex
  • Prognosis
  • RT-PCR

ASJC Scopus subject areas

  • Oncology
  • Hematology

Cite this