Diagnosis and monitoring of PML-RARA-positive acute promyelocytic leukemia by qualitative RT-PCR.
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.
Rossi
Vincenzo
V
Centro Ricerca M. Tettamanti, Clinica Pediatrica Università di Milano Bicocca, Monza, Italy.
Levati
Laura
L
Biondi
Andrea
A
D002884:Chromosomes, Human, Pair 15; D002886:Chromosomes, Human, Pair 17; D020869:Gene Expression Profiling / Q000379:methods; D006801:Humans; D015473:Leukemia, Promyelocytic, Acute / Q000175:diagnosis* / Q000235:genetics*; D008991:Monitoring, Physiologic / Q000379:methods; D009363:Neoplasm Proteins / Q000235:genetics*; D018365:Neoplasm, Residual / Q000235:genetics; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction / Q000379:methods*; D014178:Translocation, Genetic
D009363:Neoplasm Proteins; D015514:Oncogene Proteins, Fusion; C093476:promyelocytic leukemia-retinoic acid receptor alpha fusion oncoprotein