A copy number repeat polymorphism in the transactivation domain of the CEPBA gene is possibly associated with a protective effect against acquired CEBPA mutations: an analysis in 1135 patients with AML and 187 healthy controls

A novel hierarchical prognostic model of AML solely based on molecular mutations

“…28 Molecular analyses for FLT3-ITD (internal tandem duplication), 8 MLL-PTD (partial tandem duplication), 29 and mutations of NPM1 were performed as described. 9,[30][31][32][33] The complete regions of CEBPA and RUNX1 were investigated by 454 deep sequencing (Roche Applied Science) as previously described. 34,35 Furthermore, ASXL1 exon 12 aberrations were investigated by Sanger sequencing.…”

Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype

“…18,[22][23][24][25][26] Further details on statistical analyses and gene expression profiling are provided online. All microarray data are available in the Gene Expression Omnibus (GEO) under accession number GSE30442.…”

Presence of FLT3-ITD and high BAALC expression are independent prognostic markers in childhood acute myeloid leukemia

“…Patients with identified mutations were in addition analyzed by fragment analysis and sequenced as described elsewhere. 39 SeqScape Version 2.5.0 software (Applied Biosystems) with GenBank NM_0004364.3 as reference sequence was used to determine sequence variants, with the following being regarded as polymorphisms: c.690G Ͼ T (rs34529039), c.574_578dup, and c.573G Ͼ C. 40,41 WT1 mutations were detected by PCR amplification of genomic DNA and sequencing of exon 7 and exon 9 where the majority of reported WT1 mutations have been found. 24 Primers used for PCR and sequencing were WT1ex7-F (5Ј-ATGGGGATCTGGAGTGTGAAT-3Ј), WT1ex7-R (5Ј-AC-AGCGGGCACACTTACC-3Ј), WT1ex9PCR-F (5Ј-GGACTGGGGAAA-TCTAAG-3Ј), WT1ex9PCR-R (5Ј-TTCTGCTGCTTTTCTGTA-3Ј), WT1ex9Seq-F (5Ј-GGACTGGGGAAATCTAAG-3Ј), and WT1ex9Seq-R (5Ј-AAAGATAGCCACGCACTA-3Ј).…”