title: Underestimation of inversion (16) in acute myeloid leukaemia using standard cytogenetics as compared with polymerase chain reaction: results of a prospective investigation.
abstract: In order to determine whether the polymerase chain reaction (PCR) is more suitable for the detection of inversion (16) as compared with standard cytogenetics, we prospectively investigated a total of 132 cases of de novo acute myeloid leukaemia (AML) (n = 121) and secondary AML after myelodysplastic syndromes (MDS) (n = 11) using a sensitive and nested PCR procedure to detect the fusion transcripts CBFbeta-MYH11. All patients were recruited within 10 months in an ongoing multicentre AML-trial. In addition, several cases from a retrospective molecular analysis were included. The data were compared with standard cytogenetics performed in a central laboratory. Of the 132 prospective AML cases, five patients (3.7%) harboured inv(16) upon conventional cytogenetics. In all cases fusion transcripts CBFbeta-MYH11 were detected using PCR. In addition in two patients fusion transcripts were detected, although cytogenetics revealed a normal karyotype. In the group of patients analysed retrospectively, four patients harboured fusion transcripts specific for CBFbeta-MYH11; cytogenetics were normal in one case, and could not be evaluated in two cases. These data show that PCR may be a better means to detect inv(16) in AML. Since inv(16) may have prognostic impact in AML, detection of this aberration seems important in the clinical management of AML patients.
authors.affiliation: Medizinische Klinik und Poliklinik I, Abteilung für Hämatologie/Onkologie, Universitätsklinikum Carl Gustav Carus, Dresden, Germany.
authors.forename: M
authors.initials: M
authors.lastname: Ritter
authors.forename: C
authors.initials: C
authors.lastname: Thiede
authors.forename: U
authors.initials: U
authors.lastname: Schäkel
authors.forename: M
authors.initials: M
authors.lastname: Schmidt
authors.forename: B
authors.initials: B
authors.lastname: Alpen
authors.forename: U
authors.initials: U
authors.lastname: Pascheberg
authors.forename: B
authors.initials: B
authors.lastname: Mohr
authors.forename: G
authors.initials: G
authors.lastname: Ehninger
authors.forename: A
authors.initials: A
authors.lastname: Neubauer
mesh_terms: D000208:Acute Disease; D007446:Chromosome Inversion; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics*; D003582:Cytogenetics / Q000379:methods*; D006801:Humans; D007951:Leukemia, Myeloid / Q000235:genetics*; D015514:Oncogene Proteins, Fusion; D016133:Polymerase Chain Reaction; D011446:Prospective Studies; D014157:Transcription Factors
chemical_list: D015514:Oncogene Proteins, Fusion; D014157:Transcription Factors