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. 2012 Feb;97(2):246–250. doi: 10.3324/haematol.2011.051581

Figure 1.

Figure 1.

Uniparental disomy of 2p23.3 results in homozygous DNMT3A mutations in distinct t-AML and sAML patients. (A) Electropherograms of two homozygous DNMT3A mutations in t-AML samples showing no mutation in the corresponding constitutional material. SNP-array analysis revealed a copy-neutral loss of heterozygosity of 2p11-2pter that harbors the DNMT3A gene locus in both t-AML samples. (B) Electro-pherograms of one patient (upper panel) with a somatic heterozygous mutation in MDS who developed a homozygous W795C mutation during the progression to sAML. A second patient (lower panel) showed a somatic heterozygous mutation at sAML diagnosis, but displayed a homozygous F752L mutation at the time of sAML relapse after autologous stem cell transplantation. Corresponding SNP-array analysis demonstrated a copy-neutral loss of heterozygosity of 2p23.3-2pter in both samples with the homozygous mutations, but not in the samples with heterozygous DNMT3A mutations. c: constitutional material; LOH: loss of heterozygosity; CN: copy number; Chr2p: short arm of chromosome 2.