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References
Owen CJ, Toze CL, Koochin A, Forrest DL, Smith CA, Stevens JM et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008; 112: 4639–4645.
Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166–175.
Michaud J, Simpson KM, Escher R, Buchet-Poyau K, Beissbarth T, Carmichael C et al. Integrative analysis of RUNX1 downstream pathways and target genes. BMC Genomics 2008; 31: 363.
Mikhail FM, Sinha KK, Saunthararajah Y, Nucifora G . Normal and transforming functions of RUNX1: a perspective. J Cell Physiol 2006; 207: 582–593.
Renneville A, Roumier C, Biggio V, Nibourel O, Boissel N, Fenaux P et al. Cooperating gene mutations in acute myeloid leukemia: a review of the literature. Leukemia 2008; 22: 915–931.
Ripperger T, Steinemann D, Göhring G, Finke J, Niemeyer CM, Strahm B et al. A novel pedigree with heterozygous germline RUNX1 mutation causing familial MDS-related AML: can these families serve as a multistep model for leukemic transformation? Leukemia 2009; 23: 1364–1366.
Michaud J, Wu F, Osato M, Cottles GM, Yanagida M, Asou N et al. In vitro analyses of known and novel RUNX1/AML1 mutations in dominant familial platelet disorder with predisposition to acute myelogenous leukemia: implications for mechanisms of pathogenesis. Blood 2002; 99: 1364–1372.
Buijs A, Poddighe P, van WR, van SW, Borst E, Verdonck L et al. A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001; 98: 2856–2858.
Acknowledgements
We are grateful to all patients for their participation in this study. The Affymetrix array analyses in pedigree 2 were performed by the Australian Genome Research Facility, which was established through the Commonwealth-funded Major National Research Facilities program. MCJ Jongmans is an MD-medical research trainee, sponsored by The Netherlands Organisation for Health Research and Development. This work was also supported by grants from the National Health and Medical Research Council of Australia to HSS (program Grants 257501 and 219176, fellowships 171601 and 461204), and a Dora Lush Postgraduate Award (CLC), a Leukaemia Foundation of Australia (grant-in-aid to HSS, postdoctoral fellowship to CLC), the Cancer Council of South Australia (HSS), and MedVet Pty Ltd (HSS).
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Jongmans, M., Kuiper, R., Carmichael, C. et al. Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: clues for improved identification of the FPD/AML syndrome. Leukemia 24, 242–246 (2010). https://doi.org/10.1038/leu.2009.210
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DOI: https://doi.org/10.1038/leu.2009.210
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