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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Buijs, A. Articles by Lokhorst, H. Search for Related Content PubMed PubMed Citation Articles by Buijs, A. Articles by Lokhorst, H. Related Collections Neoplasia Transplantation Apoptosis Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 1 November 2001, Vol. 98, No. 9, pp. 2856-2858 BRIEF REPORT A novel CBFA2 single-nucleotide mutation in familial platelet disorder with propensity to develop myeloid malignancies Arjan Buijs, Pino Poddighe, Richard van Wijk, Wouter van Solinge, Eric Borst, Leo Verdonck, Anton Hagenbeek, Peter Pearson, and Henk Lokhorst From the Division of Medical Genetics and the Departments of Hematology, Immunology, and Clinical Chemistry, University Medical Center Utrecht, The Netherlands. Hereditary mutations associated with hematologic malignancies are rare. Heterozygous mutations affecting the hematopoietic transcription factor CBFA2 (also AML1/RUNX1) were recently reported to be associated with familial platelet disorder with predisposition to acute myeloid leukemia (FPD/AML, MIM 601399). A new 3-generation family with FPD/AML with a novel CBFA2 mutation is described. In this family, AML was diagnosed in a second-generation male. After allogeneic stem cell transplantation from his human leukocyte antigen-identical sister, a donor-derived, genetically identical leukemia developed in the recipient and the donor. Sequencing analysis identified a G-to-T transition within the CBFA2 gene, which involves codon 198, encoding a conserved aspartic acid within the DNA- binding Runt domain. Three of 5 siblings affected with the FPD/AML trait harbored the mutation in a heterozygous form. This experience underscores the necessity of performing mutation analysis of the CBFA2 gene before sibling allogeneic transplantation in families with FPD/AML. © 2001 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: C. J. Owen, C. L. Toze, A. Koochin, D. L. Forrest, C. A. Smith, J. M. Stevens, S. C. Jackson, M.-C. Poon, G. D. Sinclair, B. Leber, et al. Five new pedigrees with inherited RUNX1 mutations causing familial platelet disorder with propensity to myeloid malignancy Blood, December 1, 2008; 112(12): 4639 - 4645. [Abstract] [Full Text] [PDF] K. Kirito, K. Sakoe, D. Shinoda, Y. Takiyama, K. Kaushansky, and N. Komatsu A novel RUNX1 mutation in familial platelet disorder with propensity to develop myeloid malignancies Haematologica, January 1, 2008; 93(1): 155 - 156. [Abstract] [Full Text] [PDF] P. G. Heller, A. C. Glembotsky, M. J. Gandhi, C. L. Cummings, C. J. Pirola, R. F. Marta, L. I. Kornblihtt, J. G. Drachman, and F. C. Molinas Low Mpl receptor expression in a pedigree with familial platelet disorder with predisposition to acute myelogenous leukemia and a novel AML1 mutation Blood, June 15, 2005; 105(12): 4664 - 4670. [Abstract] [Full Text] [PDF] D. H. Christiansen, M. K. Andersen, and J. Pedersen-Bjergaard Mutations of AML1 are common in therapy-related myelodysplasia following therapy with alkylating agents and are significantly associated with deletion or loss of chromosome arm 7q and with subsequent leukemic transformation Blood, September 1, 2004; 104(5): 1474 - 1481. [Abstract] [Full Text] [PDF] H. Harada, Y. Harada, H. Niimi, T. Kyo, A. Kimura, and T. Inaba High incidence of somatic mutations in the AML1/RUNX1 gene in myelodysplastic syndrome and low blast percentage myeloid leukemia with myelodysplasia Blood, March 15, 2004; 103(6): 2316 - 2324. [Abstract] [Full Text] [PDF] J. G. Drachman Inherited thrombocytopenia: when a low platelet count does not mean ITP Blood, January 15, 2004; 103(2): 390 - 398. [Abstract] [Full Text] [PDF] Z. Li, J. Yan, C. J. Matheny, T. Corpora, J. Bravo, A. J. Warren, J. H. Bushweller, and N. A. Speck Energetic Contribution of Residues in the Runx1 Runt Domain to DNA Binding J. Biol. Chem., August 29, 2003; 278(35): 33088 - 33096. [Abstract] [Full Text] [PDF] H. Harada, Y. Harada, H. Tanaka, A. Kimura, and T. Inaba Implications of somatic mutations in the AML1 gene in radiation-associated and therapy-related myelodysplastic syndrome/acute myeloid leukemia Blood, January 15, 2003; 101(2): 673 - 680. [Abstract] [Full Text] [PDF]

	Copyright © 2001 by American Society of Hematology         Online ISSN: 1528-0020