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. 2022 Jan 20;139(3):461-464.
doi: 10.1182/blood.2021014052.

DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Margaret A Ferris  1 , Amanda M Smith  2 , Sharon E Heath  2 , Eric J Duncavage  3 , Matthew Oberley  4 , David Freyer  5 , Robert Wynn  6 , Sofia Douzgou  7   8   9 , John M Maris  10   11 , Anne F Reilly  10   11 , Melinda D Wu  12 , Florence Choo  12 , Roel B Fiets  13 , Saskia Koene  14 , David H Spencer  2 , Christopher A Miller  2 , Marwan Shinawi  1 , Timothy J Ley  2
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DNMT3A overgrowth syndrome is associated with the development of hematopoietic malignancies in children and young adults

Margaret A Ferris et al. Blood. .
No abstract available

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Figures

Figure 1.
Figure 1.
Case 1, AML characterization. (A) Presentation bone marrow aspirate, AML blasts with folded nuclei, prominent nucleoli, and fine chromatin, consistent with FAB subtype M4. The stain is Wright-Giemsa; original magnification is ×1000. (B) Variant allele frequencies (VAFs) of high-coverage-depth (>100×) somatic mutations from the patient's bone marrow plotted against tumor coverage. The kernel density plot (top; a.u., arbitrary units) is suggestive of at least 1 major subclonal population. AML-related mutations are labeled (bottom). The germline DNMT3A mutation is denoted in blue for context. (C) VAFs of the leukemia and remission samples, showing that all leukemic cells were cleared. Only 0.03% of remission sample reads at mutation locations had variant-supporting reads, well within the error rate of the sequencing process.
See this image and copyright information in PMC

References

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    1. Ley TJ, Ding L, Walter MJ, et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med. 2010;363(25):2424-2433. - PMC - PubMed

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