Figure 1: Single-cell-derived colony analysis identifies a recurrent order of acquisition of AML mutations and chromosomal rearrangements.
From: Genetic hierarchy and temporal variegation in the clonal history of acute myeloid leukaemia
(a) Left panel: allele specific (AS) PCR amplification plots of mutant (red) and wild type (blue) alleles in seven colonies from patient UPN2014-001. Asterisks indicate mutant allele detection. Right panel: results of AS assays (rows) in 87 colonies (columns). Mutant colonies are indicated by coloured boxes. Blue: lesions in epigenetic regulators; cyan: lesions involving NPM1, transcription or splicing factors; green: proliferative lesions; pink: other lesions. (b) Mutation order in eight patients with normal karyotype AML. Dashed arrows and hatched circles indicate positions that could not be determined. (c) Analysis of 85 colonies from patient UPN2014-015 as in a. To detect del(20q), an informative single-nucleotide polymorphism (SNP)(rs11556379) was used. The inferred order of lesions is shown. (d) Genotyping analyses, as in a, and FISH analyses of colonies from patient UPN2014-003. Dissociations of the red and green signals indicate MLL rearrangements. Nuclei were stained with 4,6-diamidino-2-phenylindole. Bars indicate 10 μm. Right panel: results of FISH and AS assays, as in a. The inferred order of lesions is shown. (e) Order of lesions in five additional abnormal karyotype AMLs.
