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Case Reports
. 2021 Nov;35(11):3299-3303.
doi: 10.1038/s41375-021-01228-y. Epub 2021 Apr 8.

Divergent clonal evolution of blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia from a shared TET2-mutated origin

Kiran Batta  1 , Hasse M Bossenbroek  2 , Naveen Pemmaraju  3 , Deepti P Wilks  4 , Richard Chasty  5 , Mike Dennis  5 , Paul Milne  6   7 , Matthew Collin  6   7 , Hannah C Beird  8 , Justin Taylor  9 , Mrinal M Patnaik  10 , Catherine A Cargo  11 , Tim C P Somervaille  5   12 , Daniel H Wiseman  13   14
Affiliations
Case Reports

Divergent clonal evolution of blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia from a shared TET2-mutated origin

Kiran Batta et al. Leukemia. 2021 Nov.
No abstract available

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Conflict of interest statement

The authors declare no competing interests.

Figures

Fig. 1
Fig. 1. Early divergent clonal evolution of CMML and BPDCN from a shared founding clone.
A Schematic of experimental setup and samples used for whole exome sequencing from the index patient. B Venn diagram showing the distribution of all somatic variants identified across the five sequenced exomes (n = 249). C Phylogenetic evolution tree for the nine distinct mutation clusters identified by SciClone across the five sequenced exomes; clusters unique to specific compartments are indicated in parentheses. D Composite fish plot depicting the clonal architecture and evolution in our index patient. Each color represents the indicated clone and aligns with color scheme in (C); cluster numbers were automatically assigned by SciClone and are annotated on the plot. Selected exemplar mutations for each defined cluster are also labeled. Block arrows emphasize the distinct evolution paths toward CMML and BPDCN, and then for the BPDCN marrow expansion at disease progression. For enhanced clarity, the clonal arrangement within the small BPDCN-BM-1 clone (representing 1.08% of total marrow cells by flow cytometry) is expanded within the inset, as indicated. Similarly, the plot for the contemporaneous presentation skin sample (BPDCN-SK-1) is inverted/transposed, to display clonal evolution in this tissue separately from the bone marrow-derived samples (rather than in misleading linear series).
Fig. 2
Fig. 2. Mutation oncoprint depicting all somatic coding and pathogenic splice site variants (n = 98) across each of the five sequenced exomes from the index patient.
Variants are arranged according to mutation cluster as determined by ClonEvol/Sciclone (see Fig. 1C, D); color intensity is scaled to represent variant allele frequency for each mutation.
See this image and copyright information in PMC

References

    1. Khoury JD. Blastic plasmacytoid dendritic cell neoplasm. Curr Hematol Malig Rep. 2018;13:477–83. doi: 10.1007/s11899-018-0489-z. - DOI - PubMed
    1. Brunetti L, Battista VD, Venanzi A, Schiavoni G, Martelli MP, Ascani S, et al. Blastic plasmacytoid dendritic cell neoplasm and chronic myelomonocytic leukemia: a shared clonal origin. Leukemia. 2017;31:1238–40. doi: 10.1038/leu.2017.38. - DOI - PubMed
    1. Patnaik MM, Lasho T, Howard M, Finke C, Ketterling RL, Al-Kali A, et al. Biallelic inactivation of the retinoblastoma gene results in transformation of chronic myelomonocytic leukemia to a blastic plasmacytoid dendritic cell neoplasm: shared clonal origins of two aggressive neoplasms. Blood Cancer J. 2018;8:82. doi: 10.1038/s41408-018-0120-5. - DOI - PMC - PubMed
    1. Lucas N, Duchmann M, Rameau P, Noël F, Michea P, Saada V, et al. Biology and prognostic impact of clonal plasmacytoid dendritic cells in chronic myelomonocytic leukemia. Leukemia. 2019;33:2466–80. doi: 10.1038/s41375-019-0447-3. - DOI - PubMed
    1. Berggren DM, Folkvaljon Y, Engvall M, Sundberg J, Lambe M, Antunovic P, et al. Prognostic scoring systems for myelodysplastic syndromes (MDS) in a population‐based setting: a report from the Swedish MDS register. Br J Haematol. 2018;181:614–27. doi: 10.1111/bjh.15243. - DOI - PubMed

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