Philadelphia-Positive Acute Myeloblastic Leukemia: A Rare Entity

Novel multiplex RT-PCR assay to detect BCR/ABL mRNA variants

“…It has been reported that as many as 30% of adult ALL cases are Ph+, while < 5% of AML cases express the BCR/ABL oncoprotein. 5,6 Due to the unique nature of the BCR/ABL oncoprotein in these diseases, targeted drugs belonging to the class of tyrosine kinase inhibitors (TKI) are now used to effectively treat CML and aid in the induction responses of both Ph+ AML and ALL. Stable expression of BCR/ABL mRNA transcripts in each diseased cell has also led to novel monitoring methods, allowing detection of minimal residual disease (MRD) at levels as low as 0.001% disease.…”

“…8,9 Ph+ ALL is more commonly associated with the p190 protein isoform, with only 20% of BCR/ ABL positive cases being p210 positive. 6,10 Ph+ AML cases, while rare, are predominately associated with the p210 transcript type, 5 although p190 cases have been reported. 11 Diagnosis and treatment of these BCR/ABL-positive diseases does not require the identification of the specific mRNA variant, as the simple presence of the t(9;22) translocation (detected The detection of the t(9;22) translocation, which results in the formation of the BCR/ABL oncoprotein, in patients diagnosed with chronic and acute leukaemias, allows for the administration of highly effective tyrosine kinase inhibitors such as imatinib and nilotinib.…”