Novel RUNX1 mutations in familial platelet disorder with enhanced risk for acute myeloid leukemia: Clues for improved identification of the FPD/AML syndrome

Leukemia

Volumn 24, Issue 1, 2010, Pages 242-246

  Jongmans, M C J ^a   Kuiper, R P ^a   Carmichael, C L ^b,c   Wilkins, E J ^b   Dors, N ^d   Carmagnac, A ^b   Schouten Van Meeteren, A Y N ^d   Li, X ^b,e   Stankovic, M ^b,e   Kamping, E ^a   Bengtsson, H ^f   Schoenmakers, E F P M ^a   Van Kessel, A Geurts ^a   Hoogerbrugge, P M ^a   Hahn, C N ^b,e   Brons, P P ^a   Scott, H S ^b,c,e   Hoogerbrugge, N ^a  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b WALTER AND ELIZA HALL INSTITUTE OF MEDICAL RESEARCH   (Australia)

^c UNIVERSITY OF MELBOURNE   (Australia)

^d EMMA CHILDREN S HOSPITAL   (Netherlands)

^e UNIVERSITY OF ADELAIDE   (Australia)

^f UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ADOLESCENT; ADULT; BONE MARROW TRANSPLANTATION; CANCER RISK; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; EPISTAXIS; FAMILIAL DISEASE; FEMALE; GENE MUTATION; HUMAN; KARYOTYPE; LETTER; LEUKEMIA REMISSION; LEUKEMOGENESIS; MALE; MOLECULAR GENETICS; MYELODYSPLASTIC SYNDROME; NONHODGKIN LYMPHOMA; PANCYTOPENIA; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; THROMBOCYTE COUNT; THROMBOCYTE DISORDER; THROMBOCYTOPENIA;

EID: 74249104168     PISSN: 08876924     EISSN: 14765551     Source Type: Journal    
DOI: 10.1038/leu.2009.210     Document Type: Letter

References (8)

1. 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.
2. Song WJ, Sullivan MG, Legare RD, Hutchings S, Tan X, Kufrin D et al. Haploinsufficiency of CBFA2 causes familial thrombocyto-penia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999; 23: 166-175.
3. 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.
4. Mikhail FM, Sinha KK, Saunthararajah Y, Nucifora G. Normal and transforming functions of RUNX1: a perspective. J Cell Physiol 2006; 207: 582-593.
5. 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.
6. 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.
7. 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 pathogen-esis. Blood 2002; 99: 1364-1372.
8. 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.