RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes

Haematologica

Volumn 97, Issue 12, 2012, Pages 1909-1915

  Greif, Philipp A ^a,b   Konstandin, Nikola P ^a,b   Metzeler, Klaus H ^a   Herold, Tobias ^a   Pasalic, Zlatana ^a   Ksienzyk, Bianka ^a   Dufour, Annika ^a   Schneider, Friederike ^a   Schneider, Stephanie ^a   Kakadia, Purvi M ^a,b,f   Braess, Jan ^c   Sauerland, Maria Cristina ^d   Berdel, Wolfgang E ^d   Büchner, Thomas ^d   Woermann, Bernhard J ^e   Hiddemann, Wolfgang ^a,b   Spiekermann, Karsten ^a,b   Bohlander, Stefan K ^a,b,f  

^a UNIVERSITY OF MUNICH   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c Oncology and Hematology   (Germany)

^d UNIVERSITY OF MÜNSTER   (Germany)

^e German Society of Hematology and Oncology   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

Author keywords

Acute myeloid leukemia; Mutations; Prognosis; RUNX1

Indexed keywords

LACTATE DEHYDROGENASE; TRANSCRIPTION FACTOR RUNX1;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; AGE; AGED; ARTICLE; CANCER PROGNOSIS; CHROMOSOME DUPLICATION; CLINICAL TRIAL (TOPIC); CONTROLLED STUDY; DNA SEQUENCE; FEMALE; GENDER; GENE EXPRESSION PROFILING; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; LEUKEMIA REMISSION; LEUKOCYTE COUNT; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MULTICENTER STUDY (TOPIC); OVERALL SURVIVAL; POLYMERASE CHAIN REACTION; RECURRENCE FREE SURVIVAL; UPREGULATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; COHORT STUDIES; CORE BINDING FACTOR ALPHA 2 SUBUNIT; FEMALE; FOLLOW-UP STUDIES; GENE EXPRESSION PROFILING; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; MUTATION; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; PROGNOSIS; REMISSION INDUCTION; SURVIVAL RATE; TUMOR MARKERS, BIOLOGICAL;

EID: 84870437993     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.064667     Document Type: Article

References (25)

1. Peterson LF, Zhang DE. The 8;21 translocation in leukemogenesis. Oncogene. 2004;23 (24):4255-62.
2. Swiers G, de Bruijn M, Speck NA.Hematopoietic stem cell emergence in the conceptus and the role of Runx1. Int J Dev Biol. 2010;54(6-7):1151-63.
3. Harada Y, Harada H. Molecular pathways mediating MDS/AML with focus on AML1/RUNX1 point mutations. J Cell Physiol. 2009;220(1):16-20.
4. Osato M. Point mutations in the RUNX1/AML1 gene: another actor in RUNX leukemia. Oncogene. 2004;23(24): 4284-96.
5. Gaidzik VI, Bullinger L, Schlenk RF, Zimmermann AS, Rock J, Paschka P, et al. RUNX1 mutations in acute myeloid leukemia: results from a comprehensive genetic and clinical analysis from the AML study group. J Clin Oncol. 2011;29(10): 1364-72.
6. Tang JL, Hou HA, Chen CY, Liu CY, Chou WC, Tseng MH, et al. AML1/RUNX1 mutations in 470 adult patients with denovo acute myeloid leukemia: prognostic implication and interaction with other genealterations. Blood. 2009;114(26):5352-61.
7. Schnittger S, Dicker F, Kern W, Wendland N, Sundermann J, Alpermann T, et al. RUNX1 mutations are frequent in de novoAML with noncomplex karyotype and conferan unfavorable prognosis. Blood. 2011;117(8):2348-57.
8. Silva FP, Swagemakers SM, Erpelinck-Verschueren C, Wouters BJ, Delwel R, Vrieling H, et al. Gene expression profiling of minimally differentiated acute myeloid leukemia: M0 is a distinct entity subdivided by RUNX1 mutation status. Blood. 2009;114(14):3001-7.
9. Buchner T, Berdel WE, Schoch C, Haferlach T, Serve HL, Kienast J, et al. Double induction containing either two courses or one course of high-dose cytarabine plus mitoxantrone and postremission therapy by either autologous stem-cell transplantation or by prolonged maintenance for acute myeloid leukemia. J Clin Oncol. 2006;24 (16):2480-9.
10. Haferlach T, Kohlmann A, Schnittger S, Dugas M, Hiddemann W, Kern W, et al. Global approach to the diagnosis of leukemia using gene expression profiling. Blood. 2005;106(4):1189-98.
11. Metzeler KH, Hummel M, Bloomfield CD, Spiekermann K, Braess J, Sauerland MC, et al. An 86-probe-set gene-expression signature predicts survival in cytogenetically normal acute myeloid leukemia. Blood. 2008;112(10):4193-201.
12. Ferrari F, Bortoluzzi S, Coppe A, Sirota A, Safran M, Shmoish M, et al. Novel definition files for human GeneChips based on GeneAnnot. BMC Bioinformatics. 2007;8: 446.
13. Huber W, von Heydebreck A, Sultmann H, Poustka A, Vingron M. Variance stabilization applied to microarray data calibration and to the quantification of differential expression. Bioinformatics. 2002;18 (Suppl 1):S96-104.
14. Scheid S, Spang R. A stochastic downhillsearch algorithm for estimating the local false discovery rate. IEEE/ACM Trans Comput Biol Bioinform. 2004;1(3):98-108.
15. Shi L, Jones WD, Jensen RV, Harris SC, Perkins RG, Goodsaid FM, et al. The balanceof reproducibility, sensitivity, and specificity of lists of differentially expressed genes in microarray studies. BMC Bioinformatics. 2008;9 (Suppl 9):S10.
16. R_Development_Core_Team. R: A languageand environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. 2006:{ISBN}3-900051-07-0.
17. Subramanian A, Tamayo P, Mootha VK, Mukherjee S, Ebert BL, Gillette MA, et al. Gene set enrichment analysis: a knowledgebased approach for interpretinggenome-wide expression profiles. Proc Natl Acad Sci USA. 2005;102(43):15545-50.
18. Krug U, Rollig C, Koschmieder A, Heinecke A, Sauerland MC, Schaich M, et al. Complete remission and early death after intensive chemotherapy in patients aged 60 years or older with acute myeloid leukaemia: a web-based application for prediction of outcomes. Lancet. 2010;376 (9757):2000-8.
19. Becker H, Marcucci G, Maharry K, Radmacher MD, Mrozek K, Margeson D, et al. Favorable prognostic impact of NPM1 mutations in older patients with cytogeneticallynormal de novo acute myeloid leukemia and associated gene- and microRNA-expression signatures: a Cancer and Leukemia Group B study. J Clin Oncol. 2010;28(4):596-604.
20. Silva FP, Lind A, Brouwer-Mandema G, Valk PJ, Giphart-Gassler M. Trisomy 13 correlates with RUNX1 mutation and increased FLT3 expression in AML-M0 patients. Haematologica. 2007;92(8):1123-6.
21. Venditti A, Del Poeta G, Buccisano F, Tamburini A, Cox-Froncillo MC, Aronica G, et al. Prognostic relevance of the expression of Tdt and CD7 in 335 cases of acute myeloid leukemia. Leukemia. 1998;12(7):1056-63.
22. Cristobal I, Blanco FJ, Garcia-Orti L, Marcotegui N, Vicente C, Rifon J, et al. SETBP1 overexpression is a novel leukemogenic mechanism that predicts adverse outcome in elderly patients with acute myeloid leukemia. Blood. 2010;115(3):615-25.
23. Recher C, Ysebaert L, Beyne-Rauzy O, Mansat-De Mas V, Ruidavets JB, Cariven P, et al. Expression of focal adhesion kinase in acute myeloid leukemia is associated with enhanced blast migration, increased cellularity, and poor prognosis. Cancer Res. 2004;64(9):3191-7.
24. Baldus CD, Tanner SM, Ruppert AS, Whitman SP, Archer KJ, Marcucci G, et al. BAALC expression predicts clinical outcome of de novo acute myeloid leukemia patients with normal cytogenetics: a Cancer and Leukemia Group B study. Blood. 2003;102(5):1613-8.
25. Ren J, Wen L, Gao X, Jin C, Xue Y, Yao X. DOG 1.0: illustrator of protein domain structures. Cell Res. 2009;19(2):271-3.