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Stem cell transplantation

Whole-exome sequencing reveals acquisition of mutations leading to the onset of donor cell leukemia after hematopoietic transplantation: a model of leukemogenesis

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References

  1. Rodríguez-Macías G, Martínez-Laperche C, Gayoso J, Noriega V, Serrano D, Balsalobre P, et al. Mutation of the NPM1 gene contributes to the development of donor cell–derived acute myeloid leukemia after unrelated cord blood transplantation for acute lymphoblastic leukemia. Hum Pathol. 2013;44:1696–9.

    Article  PubMed  CAS  Google Scholar 

  2. Ribera J-M, Oriol A, Morgades M, Montesinos P, Sarrà J, González-Campos J, et al. Treatment of high-risk Philadelphia chromosome-negative acute lymphoblastic leukemia in adolescents and adults according to early cytologic response and minimal residual disease after consolidation assessed by flow cytometry: final results of the PETHEMA ALL-AR-03 trial. J Clin Oncol. 2014;32:1595–604.

    Article  PubMed  CAS  Google Scholar 

  3. Hinds DA, Barnholt KE, Mesa RA, Kiefer AK, Do CB, Eriksson N, et al. Germ line variants predispose to both JAK2 V617F clonal hematopoiesis and myeloproliferative neoplasms. Blood. 2016;128:1121–8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  4. Chen Y, Fang F, Hu Y, Liu Q, Bu D, Tan M, et al. The polymorphisms in LNK gene correlated to the clinical type of myeloproliferative neoplasms. PLoS ONE. 2016;11:e0154183.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  5. Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature. 2016;536:285–91.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  6. Advani AS, Lim K, Gibson S, Shadman M, Jin T, Copelan E, et al. OCT-2 expression and OCT-2/BOB.1 co-expression predict prognosis in patients with newly diagnosed acute myeloid leukemia. Leuk Lymphoma. 2010;51:606–12.

    Article  PubMed  CAS  Google Scholar 

  7. Winum J-Y, Scozzafava A, Montero J-L, Supuran CT. Inhibition of carbonic anhydrase IX: a new strategy against cancer. Anticancer Agents Med Chem. 2009;9:693–702.

    Article  PubMed  CAS  Google Scholar 

  8. Klinakis A, Lobry C, Abdel-Wahab O, Oh P, Haeno H, Buonamici S, et al. A novel tumour-suppressor function for the Notch pathway in myeloid leukaemia. Nature. 2011;473:230–3.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  9. Grimwade D, Ivey A, Huntly BJP. Molecular landscape of acute myeloid leukemia in younger adults and its clinical relevance. Blood. 2016;127:29–41.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  10. Falini B, Martelli MP, Bolli N, Sportoletti P, Liso A, Tiacci E, et al. Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity? Blood. 2011;117:1109–20.

    Article  PubMed  CAS  Google Scholar 

  11. Patel JL, Schumacher JA, Frizzell K, Sorrells S, Shen W, Clayton A, et al. Coexisting and cooperating mutations in NPM1-mutated acute myeloid leukemia. Leuk Res. 2017;56:7–12.

    Article  PubMed  CAS  Google Scholar 

  12. Hollink I, Zwaan CM, Zimmermann M, Arentsen-Peters T, Pieters R, Cloos J, et al. Favorable prognostic impact of NPM1 gene mutations in childhood acute myeloid leukemia, with emphasis on cytogenetically normal AML. Leukemia. 2009;23:262–70.

    Article  PubMed  CAS  Google Scholar 

  13. Yasuda T, Ueno T, Fukumura K, Yamato A, Ando M, Yamaguchi M, et al. Leukemic evolution of donor-derived cells harboring IDH2 and DNMT3A mutations after allogeneic stem cell transplantation. Leukemia. 2014;28:426–8.

    Article  PubMed  CAS  Google Scholar 

  14. Hirsch P, Mamez AC, Belhocine R, Lapusan S, Tang R, Suner L, et al. Clonal history of a cord blood donor cell leukemia with prenatal somatic JAK2 V617F mutation. Leukemia. 2016;30:1756–9.

    Article  PubMed  CAS  Google Scholar 

  15. Walter MJ, Shen D, Ding L, Shao J, Koboldt DC, Chen K, et al. Clonal architecture of secondary acute myeloid leukemia. N Engl J Med. 2012;366:1090–8.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  16. Papaemmanuil E, Gerstung M, Bullinger L, Gaidzik VI, Paschka P, Roberts ND, et al. Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med. 2016;374:2209–21.

    Article  PubMed  PubMed Central  CAS  Google Scholar 

  17. Engle EK, Fisher DaC, Miller CA, McLellan MD, Fulton RS, Moore DM, et al. Clonal evolution revealed by whole genome sequencing in a case of primary myelofibrosis transformed to secondary acute myeloid leukemia. Leukemia. 2015;29:869–76.

    Article  PubMed  CAS  Google Scholar 

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Acknowledgements

This work was partially supported by the Ministry of Economy and Competitiveness ISCIII-FIS grants PI14/01731, PI17/1880, and RD12/0036/0061, co-financed by ERDF (FEDER) Funds from the European Commission, “A way of making Europe”, as well as grants from the Fundación LAIR, Asociación Madrileña de Hematología y Hemoterapia (AMHH), Asociación Española Contra el Cáncer (AECC), and Fundación Mutua Madrileña (FMM).

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Correspondence to Carolina Martínez-Laperche.

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These authors contributed equally: Julia Suárez-González, Carolina Martínez-Laperche.

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Suárez-González, J., Martínez-Laperche, C., Martínez, N. et al. Whole-exome sequencing reveals acquisition of mutations leading to the onset of donor cell leukemia after hematopoietic transplantation: a model of leukemogenesis. Leukemia 32, 1822–1826 (2018). https://doi.org/10.1038/s41375-018-0042-z

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