Diagnostic value of detecting fusion proteins derived from chromosome translocations in acute leukemia

Francesco Lo-Coco, Massimo Breccia, Nélida Noguera, Wilson H. Miller

Research output: Contribution to journalArticlepeer-review

Abstract

Clonal chromosomal abnormalities such as balanced translocations are characteristic features of several human leukaemias and have long been detected by conventional cytogenetics on banded metaphases. The advent of molecular biology techniques, advanced karyotyping and immunohistochemistry methods has not only allowed identification of gene involvement at altered chromosome sites and better knowledge of leukaemia pathogenesis, but also contributed important improvements in diagnosis of these heterogeneous diseases. Such novel diagnostic strategies are nowadays being increasingly used to improve leukaemia classification, and in several instances, they help to establish the most appropriate therapeutic strategy in individual patients. Moreover, at least two leukaemia-associated fusion proteins derived from chromosome translocation are specifically targeted by therapeutic approaches which result in significantly increased anti-leukaemia efficacy and reduced toxicity. In this chapter, we highlight the importance of identifying these genetic lesions at diagnosis in acute leukaemia. Further, we discuss briefly the clinical utility of detecting these alterations for prognostic assessment and evaluation of response to treatment.

Original languageEnglish
Pages (from-to)653-670
Number of pages18
JournalBest Practice and Research: Clinical Haematology
Volume16
Issue number4
DOIs
Publication statusPublished - 2003

Keywords

  • Acute leukaemia
  • Chromosome translocations
  • Fusion genes

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

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