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. Author manuscript; available in PMC: 2016 Sep 22.
Published in final edited form as: Leukemia. 2016 Mar 15;30(9):1916–1920. doi: 10.1038/leu.2016.63

Figure 1.

Figure 1

Somatic mutations in donor cells prior to alloBMT and in DCL detected by targeted sequencing. (a) Patient/donor 1; the mutation in DNMT3A chr2:25464428T>C (DNMT3Ai) was present in donor cells pre-transplant and at a 10 fold higher frequency in the DCL sample. (b) An ATM L3045P (ATM) mutation was also detected in donor cells and the DCL at a similar frequency to DNMT3Ai. (c) Another mutation in DNMT3A C710S (DNMT3Ae) was found in both samples at a frequency lower than the previous 2 mutations suggesting the presence of a second, lower frequency clone. (d) Short tandem repeat (STR) analysis of donor and patient DNA prior to transplant along with DNA extracted from the DCL confirmed that leukemia originated from the donor. STR markers used are shown. (e-g) Patient/donor 2; somatic mutations in MYH9, U2AF1 and EP300 identified at low frequencies in donor's peripheral blood and at 25 fold higher frequencies in the recipient at the time of DCL diagnosis. (h) STR analysis confirmed the donor origin of leukemia. Representative images from Integrative Genomics Viewer (Broad Institute) as well as a description of mutations and the clone frequencies are shown.