Abrogation of RUNX1 gene expression in de novo myelodysplastic syndrome with t(4;21)(q21;q22)

Haematologica

Volumn 97, Issue 4, 2012, Pages 534-537

  Rio Machín, Ana ^a   Menezes, Juliane ^a   Maiques Diaz, Alba ^a   Agirre, Xabier ^b   Ferreira, Bibiana I ^a   Acquadro, Francesco ^a   Rodriguez Perales, Sandra ^a   Juaristi, Karmele A ^c   Álvarez, Sara ^a   Cigudosa, Juan C ^a  

^a Structural Biology and Biocomputing Programme   (Spain)

^b UNIVERSITY OF NAVARRA   (Spain)

^c HOSPITAL UNIVERSITARIO FUNDACIÓN ALCORCÓN   (Spain)

Author keywords

AML1; Megakariocytic lineage maturation; RUNX1 haploinsufficiency; T(4; 21)(q21; q22)

Indexed keywords

ADULT; ALLOGENIC BONE MARROW TRANSPLANTATION; ARTICLE; BONE MARROW BIOPSY; BONE MARROW CELL; CASE REPORT; CHROMOSOME ANALYSIS; CHROMOSOME G BAND; CHROMOSOME TRANSLOCATION 21; CHROMOSOME TRANSLOCATION 4; COMPARATIVE GENOMIC HYBRIDIZATION; COPY NUMBER VARIATION; FLUORESCENCE IN SITU HYBRIDIZATION; GENE; GENE EXPRESSION; HUMAN; HUMAN CELL; KARYOTYPE; MALE; MUTATIONAL ANALYSIS; MYELODYSPLASTIC SYNDROME; REAL TIME POLYMERASE CHAIN REACTION; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RUNX1 GENE; THROMBOCYTOPENIA; TRANSACTIVATION;

CHROMOSOME BANDING; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 4; GENE EXPRESSION; HUMANS; MALE; MIDDLE AGED; MYELODYSPLASTIC SYNDROMES; PROTO-ONCOGENE PROTEINS; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 84859476521     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2011.050567     Document Type: Article

References (10)

1. Blyth K, Cameron ER, Neil JC. The RUNX genes: gain or loss of function in cancer. Nat Rev Cancer. 2005;5(5):376-387.
2. Jalagadugula G, Mao G, Kaur G, Goldfinger LE, Dhanasekaran DN, Rao AK. Regulation of platelet myosin light chain (MYL9) by RUNX1: implications for thrombocytopenia and platelet dysfunction in RUNX1 haplodeficiency. Blood. 2010;116(26):6037-6045.
3. Ding Y, Harada Y, Imagawa J, Kimura A, Harada H. AML1/RUNX1 point mutation possibly promotes leukemic transformation in myeloproliferative neoplasms. Blood. 2009;114(25):5201-5215.
4. Goyama S, Mulloy JC. Molecular pathogenesis of core binding factor leukemia: current knowledge and future prospects. Int J Hematol. 2011;94(2):126-133.
5. Suela J, Alvarez S, Cifuentes F, Largo C, Ferreira BI, Blesa D, Ardanaz M, García R, Marquez JA, Odero MD, Calasanz MJ, Cigudosa JC. DNA profiling analysis of 100 consecutive de novo acute myeloid leukemia cases reveals patterns of genomic instability that affect all cytogenetic risk groups. Leukemia. 2007;21(6):1224-1223.
6. Maiques-Diaz A, Chou FS, Wunderlich M, Gómez-López G, Jacinto FV, Rodriguez-Perales S, et al. Chromatin modifications induced by the AML1/ETO fusion protein reversibly silence its genomic targets through AML1 and Sp1 binding motifs. Leukemia. 2012 Jan 13. doi: 10.1038/leu.2011.376.
7. Heinrichs S, Kulkarni RV, Bueso-Ramos CE, Levine RL, Loh ML, Li C, et al. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia. 2009;23(9): 1605-1613.
8. Challen GA, Goodell MA. Runx1 isoforms show differential expression patterns during hematopoietic development but have similar functional effects in adult hematopoietic stem cells. Exp Hematol. 2010;38(5):403-416.
9. Ghozi MC, Bernstein Y, Negreanu V, Levanon D, Groner Y. Expression of the human acute myeloid leukemia gene AML1 is regulated by two promoter regions. Proc Natl Acad Sci USA. 1996;93(5):1935-1940.
10. Lyle R, Bena F, Gagos S, Gehrig C, Lopez G, Schinzel A, et al. Genotype-phenotype correlations in Down syndrome identified by array CGH in 30 cases of partial trisomy and partial monosomy chromosome 21. Eur J Hum Genet 2009;17(4):454-466.