High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia - A single center study

Identification of the inversion 16 in patients with acute myeloid leukemia (AML) is of great practical value since these patients have a relatively fa vorable prognosis, especially wizen treated with high-nose cytarabine. We c ompared the results of cytogenetic analysis and reverse transcriptase-polym erase chain reaction (RT-PCR)for core binding factor (CBF) beta/myosin heav y chain (MYH11) in 241 unselected cases of AML. In contrast with other stud ies, we found a high concordance between these 2 methods. Eighteen of 241 p atients showed a cytogenetic anomaly of the chromosome 16 We detected the f usion transcript by RT-PCR ii? ail 18 eases and in 2 additional patients wi th AML without any cytogenetic anomaly of chromosome 16 One patient had a n ormal diploid karyotype, and the second patient showed a trisomy, 22 in kar yotype analysis, which often is associated with im,(16). Only 8 of 20 CBF b etn/MYH11-positive patients had M4Eo morphologic features. The much higher discrepancy between cytogenetic analysis and RT-PCR in other studies, espec ially, in AMLs other than M4Eo, possibly indicates the necessity for PCR sc reening regardless of the French-American-British classification.