Acute promyelocytic leukaemia (APML/AML M3) is characterised by chromosomal rearrangements of 17q21 leading to the formation of fusion proteins involving retinoic acid receptor alpha (RARA). Also a majority of cases are characterised by the presence of the t(15;17)(q22;q12-21) which involves the promyelocytic leukaemia (PML) gene. Two chimeric genes PML-RARï¡ is detected in 100% of AML patients and RARï¡-PML detected in 40% of AML patients. The detection of the PML-RARA fusion gene by quantitative polymerase chain reaction (RT-PCR) is routinely used for diagnosis and monitoring of minimal residual disease (MRD). The detection of MRD in patients with APML identifies molecular relapse and enables the prediction of haematological relapse.
Related condition
APML
Synonyms
translocation 15:17 MRD
Testing site
Synnovis : Genomics : Guy's Hospital
Laboratory
Cancer Genetics
Sample type and volume required
PB, BM
Special sample instructions
Samples should reach the laboratory within 24 hours of being taken
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