Diagnosis and monitoring of PML-RARA-positive acute promyelocytic leukemia by qualitative RT-PCR

Methods Mol Med. 2006:125:115-26. doi: 10.1385/1-59745-017-0:115.

Abstract

The t(15;17) is the diagnostic hallmark of acute promyelocytic leukemia (APL). As a result, the RARA and the promyelocytic leukemia (PML) genes are fused. The use of reverse-transcription polymerase chain reaction (RT-PCR) for the detection of the PML-RARA and RARA-PML fusion genes is the only technique that defines the PML breakpoint type and that allows the definition of a correct strategy for subsequent minimal residual disease (MRD) monitoring. Standardized conditions for RT-PCR analysis of fusion transcripts from chromosome aberrations in acute leukemia, including APL, have recently been reported in the context of the Biomed-1 Concerted Action, and are described in detail in this chapter.

MeSH terms

  • Chromosomes, Human, Pair 15
  • Chromosomes, Human, Pair 17
  • Gene Expression Profiling / methods
  • Humans
  • Leukemia, Promyelocytic, Acute / diagnosis*
  • Leukemia, Promyelocytic, Acute / genetics*
  • Monitoring, Physiologic / methods
  • Neoplasm Proteins / genetics*
  • Neoplasm, Residual / genetics
  • Oncogene Proteins, Fusion / genetics*
  • Reverse Transcriptase Polymerase Chain Reaction / methods*
  • Translocation, Genetic

Substances

  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein