Methods in Molecular Medicine™, 2006, Volume 125, 115-126, DOI: 10.1385/1-59745-017-0:115

Diagnosis and Monitoring of PML-RARA-Positive Acute Promyelocytic Leukemia by Qualitative RT-PCR

Vincenzo Rossi, Laura Levati and Andrea Biondi

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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.

Key Words  Acute promyelocytic leukemia – RT-PCR – t(15;17) – fusion transcript – minimal residual disease

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