References
- Arepally G, Rebbeck TR, Song W, et al Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML). Blood 1998;92:2600–2602.
- van der Crabben S, van Binsbergen E, Ausems M, et al Constitutional RUNX1 deletion presenting as non-syndromic thrombocytopenia with myelodysplasia: 21q22 ITSN1 as a candidate gene in mental retardation. Leuk Res 2010;34:e8–e12.
- Beri-Dexheimer M, Latger-Cannard V, Philippe C, et al Clinical phenotype of germline RUNX1 haploinsufficiency: from point mutations to large genomic deletions. Eur J Hum Genet 2008;16:1014–1018.
- Buijs A, Poddighe P, van Wijk R, et al A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies. Blood 2001;98:2856–2858.
- Kirito K, Sakoe K, Shinoda D, et al A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies. Haematologica 2008;93:155–156.
- Michaud J, Wu F, Osato M, 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.
- Owen CJ, Toze CL, Koochin A, et al Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy. Blood 2008;112:4639–4645.
- Preudhomme C, Renneville A, Bourdon V, et al High frequency of RUNX1 biallelic alteration in acute myeloid leukemia secondary to familial platelet disorder. Blood 2009;113:5583–5587.
- Song WJ, Sullivan MG, Legare RD, et al Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999;23:166–175.
- Jongmans MC, Kuiper RP, Carmichael CL, 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 2010;24:242–246.
- Ganly P, Walker LC, Morris CM. Familial mutations of the transcription factor RUNX1 (AML1, CBFA2) predispose to acute myeloid leukemia. Leuk Lymphoma 2004;45:1–10.
- Vradii D, Zaidi SK, Lian JB, et al Point mutation in AML1 disrupts subnuclear targeting, prevents myeloid differentiation, and effects a transformation-like phenotype. Proc Natl Acad Sci USA 2005;102:7174–7179.
- Harada H, Harada Y, Tanaka H, Kimura A, Inaba T. Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia. Blood 2003;101:673–680.
- Guo H, Friedman A. Phosphorylation of RUNX1 by cyclin-dependent kinase reduces direct interaction with HDAC1 and HDAC3 and stimulates marrow progenitor proliferation. Blood 2009;114:2508a.
- Tang JL, Hou HA, Chen CY, et al AML1/RUNX1 mutations in 470 adult patients with de novo acute myeloid leukemia: prognostic implication and interaction with other gene alterations. Blood 2009;114:5352–5361.