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Case Reports
. 2015 Oct;29(10):2101-4.
doi: 10.1038/leu.2015.67. Epub 2015 Mar 9.

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone

Affiliations
Case Reports

A tale of two siblings: two cases of AML arising from a single pre-leukemic DNMT3A mutant clone

C N Hahn et al. Leukemia. 2015 Oct.
No abstract available

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Figures

Figure 1
Figure 1
Mutational evolution of independent AMLs in two brothers. Mutation profiles of the donor (a) and recipient (b) brothers prior to AML diagnosis, at diagnosis, in remission, and at relapse. (c). Schematic of mutation acquisition and clonal expansion in donor and recipient bone marrow during independent evolution of their AMLs. All previously acquired mutations persisted in diagnosis samples and donor relapse sample. In the donor, all mutations present in the diagnosis sample persisted at relapse. A relapse sample from the recipient was not available. NPM1 detected at *~0.01%. MSC, mesenchymal stromal cells; Dx, diagnosis; CR1, complete remission; Rel, relapse; BMT, bone marrow transplantation; CTx, conditioning chemotherapy.
Figure 2
Figure 2
Persistence of DNMT3A mutations in complete remission. The allelic burden of DNMT3A (R882H/C) mutation was measured using a custom Sequenom assay in serial samples from a cohort of 12 additional patients with DNMT3A-mutant AML, those in whom the mutation was detected during complete remission are shown. Active AML (black), remission (red). Sample types—Dx (diagnosis), CR1 (first complete remission), CR2 (second complete remission), Rel (relapse), P1 (first sample post-BMT), P2 (second sample post-BMT). Numbers along x-axis are time after diagnosis (months).

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