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References
Preudhomme C, Renneville A, Bourdon V, Philippe N, Roche-Lestienne C, Boissel N et al. High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009; 113: 5583–5587.
Yoshimi A, Toya T, Kawazu M, Ueno T, Tsukamoto A, Iizuka H et al. Recurrent CDC25C mutations drive malignant transformation in FPD/AML. Nat Commun 2014; 5: 4770.
Micol JB, Duployez N, Boissel N, Petit A, Geffroy S, Nibourel O et al. Frequent ASXL2 mutations in acute myeloid leukemia patients with t(8;21)/RUNX1-RUNX1T1 chromosomal translocations. Blood 2014; 124: 1445–1449.
Prebet T, Carbuccia N, Raslova H, Favier R, Rey J, Arnoulet C et al. Concomitant germ-line RUNX1 and acquired ASXL1 mutations in a T-cell acute lymphoblastic leukemia. Eur J Haematol 2013; 91: 277–279.
Boissel N, Leroy H, Brethon B, Philippe N, de Botton S, Auvrignon A et al. Incidence and prognostic impact of c-Kit, FLT3, and Ras gene mutations in core binding factor acute myeloid leukemia (CBF-AML). Leukemia 2006; 20: 965–970.
Beri-Dexheimer M, Latger-Cannard V, Philippe C, Bonnet C, Chambon P, Roth V et al. Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 2008; 16: 1014–1018.
Bluteau D, Gilles L, Hilpert M, Antony-Debre I, James C, Debili N et al. Down-regulation of the RUNX1-target gene NR4A3 contributes to hematopoiesis deregulation in familial platelet disorder/acute myelogenous leukemia. Blood 2011; 118: 6310–6320.
Heller PG, Glembotsky AC, Gandhi MJ, Cummings CL, Pirola CJ, Marta RF et al. Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation. Blood 2005; 105: 4664–4670.
Liew E, Owen C . Familial myelodysplastic syndromes: a review of the literature. Haematologica 2011; 96: 1536–1542.
Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Rock J, Paschka P et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol 2011; 29: 1364–1372.
Polprasert C, Schulze I, Sekeres MA, Makishima H, Przychodzen B, Hosono N et al. Inherited and somatic defects in DDX41 in myeloid neoplasms. Cancer Cell 2015; 27: 658–670.
Pabst T, Eyholzer M, Haefliger S, Schardt J, Mueller BU . Somatic CEBPA mutations are a frequent second event in families with germline CEBPA mutations and familial acute myeloid leukemia. J Clin Oncol 2008; 26: 5088–5093.
Meyer SC, Levine RL . Translational implications of somatic genomics in acute myeloid leukaemia. Lancet Oncol 2014; 15: e382–e394.
Antony-Debre I, Manchev VT, Balayn N, Bluteau D, Tomowiak C, Legrand C et al. Level of RUNX1 activity is critical for leukemic predisposition but not for thrombocytopenia. Blood 2015; 125: 930–940.
Acknowledgements
We thank all patients, families and clinicians for their participation. The work was supported by PRTK 2009-330. IA-D is supported by a postdoctoral fellowship from the Association pour la recherche sur le cancer. OA-W is supported by an NIH K08 Clinical Investigator Award (1K08CA160647-01), a US Department of Defense Postdoctoral Fellow Award in Bone Marrow Failure Research (W81XWH-12-1-0041), the Josie Robertson Investigator Program and a Damon Runyon Clinical Investigator Award with support from the Evans Foundation. J-BM is supported by the Fondation de France.
Author contributions
N Duployez, MB, SG, AR and CP performed genetic analysis and analyzed mutational data. IA-D, N Duployez, NB and CP conceptualized the idea, designed the research and analyzed data. N Dhédin, DR, BN, CB, TL, M-JM, RF, P-GH, HR, VL-C and CP provided samples and data. IA-D, N Duployez, J-BM, OA-W and CP wrote the manuscript, which was approved by all the authors.
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Antony-Debré, I., Duployez, N., Bucci, M. et al. Somatic mutations associated with leukemic progression of familial platelet disorder with predisposition to acute myeloid leukemia. Leukemia 30, 999–1002 (2016). https://doi.org/10.1038/leu.2015.236
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DOI: https://doi.org/10.1038/leu.2015.236
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