title: Rapid and sensitive screening for CEBPA mutations in acute myeloid leukaemia.
abstract: The presence of CCAAT/enhancer binding protein alpha (CEBPA) gene mutations in patients with cytogenetically normal acute myeloid leukaemia (CN-AML) confers a favourable prognosis. Routine screening of all CN-AML patients for CEBPA mutations is therefore important for individual risk-adapted post-remission therapy and requires a fast and easy screening method. CEBPA mutations are distributed over the entire CEBPA gene and the functional and clinical consequences of the different mutations are still largely unknown. Therefore, we developed a multiplex polymerase chain reaction-based fragment length analysis mutation screening method for the entire CEBPA coding region. We initially evaluated our method by analysing 120 CN-AML samples both by fragment analysis and nucleotide sequencing and reached a sensitivity of 100% and a specificity of 90%. 349 CN-AML samples were subsequently screened for CEBPA mutations by fragment length analysis. Among a total of 469 CN-AML patient samples, 58 CEBPA mutations were detected in 38 CN-AML patients (8.1%). In conclusion, we established a fast and sensitive CEBPA mutation screening method suitable for inclusion in routine AML diagnostics.
authors.affiliation: Laboratory for Leukaemia Diagnostics, Department of Medicine III, University of Munich-Grosshadern, Germany.
authors.forename: Tobias
authors.initials: T
authors.lastname: Benthaus
authors.forename: Friederike
authors.initials: F
authors.lastname: Schneider
authors.forename: Gudrun
authors.initials: G
authors.lastname: Mellert
authors.forename: Evelyn
authors.initials: E
authors.lastname: Zellmeier
authors.forename: Stephanie
authors.initials: S
authors.lastname: Schneider
authors.forename: Purvi M
authors.initials: PM
authors.lastname: Kakadia
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Hiddemann
authors.forename: Stefan K
authors.initials: SK
authors.lastname: Bohlander
authors.forename: Michaela
authors.initials: M
authors.lastname: Feuring-Buske
authors.forename: Jan
authors.initials: J
authors.lastname: Braess
authors.forename: Karsten
authors.initials: K
authors.lastname: Spiekermann
authors.forename: Annika
authors.initials: A
authors.lastname: Dufour