title: AML with gain of chromosome 8 as the sole chromosomal abnormality (+8sole) is associated with a specific molecular mutation pattern including ASXL1 mutations in 46.8% of the patients.
abstract: Trisomy 8 is the most frequent cytogenetically gained aberration in AML. We compared 79 adult de novo AML with trisomy 8 as the sole cytogenetic abnormality (+8sole) to 511 normal karyotype AML patients (NK). +8sole patients were older (p=0.013), presented lower WBC counts (p=0.010), harbored more often ASXL1 mutations (p<0.001) and RUNX1 mutations (p=0.009), but less frequent FLT3-ITD (p=0.038), NPM1 mutations (p<0.001) and double-mutated CEBPA (p=0.038) than NK patients. No prognostic difference was found between +8sole and NK. With respect to genetic stability we found +8sole was instable, and molecular markers were either stable or gained in number and diversity.
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Tamara
authors.initials: T
authors.lastname: Alpermann
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Claudia
authors.initials: C
authors.lastname: Haferlach
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Christiane
authors.initials: C
authors.lastname: Eder
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Niroshan
authors.initials: N
authors.lastname: Nadarajah
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Manja
authors.initials: M
authors.lastname: Meggendorfer
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Wolfgang
authors.initials: W
authors.lastname: Kern
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1).
authors.forename: Torsten
authors.initials: T
authors.lastname: Haferlach
authors.affiliation: MLL Munich Leukemia Laboratory, Munich, Germany(1). Electronic address: susanne.schnittger@mll.com.
authors.forename: Susanne
authors.initials: S
authors.lastname: Schnittger
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D016022:Case-Control Studies; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics; D015331:Cohort Studies; D050676:Core Binding Factor Alpha 2 Subunit / Q000235:genetics*; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D009367:Neoplasm Staging; D000090243:Nucleophosmin; D011379:Prognosis; D012097:Repressor Proteins / Q000235:genetics*; D015996:Survival Rate; D014314:Trisomy / Q000235:genetics*; D055815:Young Adult; D051941:fms-Like Tyrosine Kinase 3 / Q000235:genetics*
chemical_list: C473949:ASXL1 protein, human; D050676:Core Binding Factor Alpha 2 Subunit; C000716967:NPM1 protein, human; C493728:RUNX1 protein, human; D012097:Repressor Proteins; D000090243:Nucleophosmin; C497970:FLT3 protein, human; D051941:fms-Like Tyrosine Kinase 3
keywords: AML; Genetic stability; Molecular mutations; Prognosis; Trisomy 8