title: High concordance of karyotype analysis and RT-PCR for CBF beta/MYH11 in unselected patients with acute myeloid leukemia. A single center study.
abstract: Identification of the inversion 16 in patients with acute myeloid leukemia (AML) is of great practical value since these patients have a relatively favorable prognosis, especially when treated with high-dose cytarabine. We compared the results of cytogenetic analysis and reverse transcriptase-polymerase chain reaction (RT-PCR) for core binding factor (CBF) beta/myosin heavy chain (MYH11) in 241 unselected cases of AML. In contrast with other studies, we found a high concordance between these 2 methods. Eighteen of 241 patients showed a cytogenetic anomaly of the chromosome 16. We detected the fusion transcript by RT-PCR in all 18 cases and in 2 additional patients with AML without any cytogenetic anomaly of chromosome 16. One patient had a normal diploid karyotype, and the second patient showed a trisomy 22 in karyotype analysis, which often is associated with inv(16). Only 8 of 20 CBF beta/MYH11-positive patients had M4Eo morphologic features. The much higher discrepancy between cytogenetic analysis and RT-PCR in other studies, especially in AMLs other than M4Eo, possibly indicates the necessity for PCR screening regardless of the French-American-British classification.
authors.affiliation: Department of Internal Medicine I, St Anna Children's Hospital, Vienna, Austria.
authors.forename: M
authors.initials: M
authors.lastname: Mitterbauer
authors.forename: K
authors.initials: K
authors.lastname: Laczika
authors.forename: M
authors.initials: M
authors.lastname: Novak
authors.forename: G
authors.initials: G
authors.lastname: Mitterbauer
authors.forename: B
authors.initials: B
authors.lastname: Hilgarth
authors.forename: H
authors.initials: H
authors.lastname: Pirc-Danoewinata
authors.forename: I
authors.initials: I
authors.lastname: Schwarzinger
authors.forename: O A
authors.initials: OA
authors.lastname: Haas
authors.forename: C
authors.initials: C
authors.lastname: Fonatsch
authors.forename: K
authors.initials: K
authors.lastname: Lechner
authors.forename: U
authors.initials: U
authors.lastname: Jaeger
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D000328:Adult; D000368:Aged; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D017931:DNA Primers / Q000737:chemistry; D006801:Humans; D007621:Karyotyping; D007951:Leukemia, Myeloid / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D012334:RNA, Neoplasm / Q000032:analysis; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D014314:Trisomy
chemical_list: C095514:CBFbeta-MYH11 fusion protein; D017931:DNA Primers; D015514:Oncogene Proteins, Fusion; D012334:RNA, Neoplasm