Minimal residual disease monitoring in t(8;21) acute myeloid leukemia based on RUNX1-RUNX1T1 fusion quantification on genomic DNA

American Journal of Hematology

Volumn 89, Issue 6, 2014, Pages 610-615

  Duployez, Nicolas ^a   Nibourel, Olivier ^a,b   Marceau Renaut, Alice ^a,b   Willekens, Christophe ^c   Helevaut, Nathalie ^a   Caillault, Aurélie ^a   Villenet, Céline ^d   Celli Lebras, Karine ^e   Boissel, Nicolas ^e   Jourdan, Eric ^f   Dombret, Hervé ^e   Figeac, Martin ^d   Preudhomme, Claude ^a,b   Renneville, Aline ^a,b  

^a Hematology Laboratory Biology and Pathology Center   (France)

^b JEAN PIERRE AUBERT RESEARCH CENTER   (France)

^c LILLE UNIVERSITY HOSPITAL   (France)

^d Functional Genomic Platform   (France)

^e SAINT LOUIS HOSPITAL   (France)

^f NÎMES UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; GENOMIC DNA; RNA; TUMOR MARKER;

ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; CANCER EPIDEMIOLOGY; CANCER RECURRENCE; CELL JUNCTION; CLINICAL ARTICLE; COMPARATIVE STUDY; DNA SEQUENCE; FEMALE; FUSION GENE; HUMAN; INTRON; LIMIT OF QUANTITATION; MALE; MINIMAL RESIDUAL DISEASE; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RUNX1 RUNX1T1 FUSION GENE;

ADOLESCENT; ADULT; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 8; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DNA, NEOPLASM; FEMALE; GENOMICS; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; NEOPLASM, RESIDUAL; ONCOGENE PROTEINS, FUSION; TRANSLOCATION, GENETIC; TUMOR CELLS, CULTURED; YOUNG ADULT;

EID: 84900860956     PISSN: 03618609     EISSN: 10968652     Source Type: Journal    
DOI: 10.1002/ajh.23696     Document Type: Article

References (28)

1. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: Rationale and important changes. Blood 2009;114:937-951.
2. Dohner H, Estey EH, Amadori S, et al. Diagnosis and management of acute myeloid leukemia in adults: Recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 2009;115:453-474.
3. Rowley JD. Identificaton of a translocation with quinacrine fluorescence in a patient with acute leukemia. Ann Génétique 1973;16:109-112.
4. Schoch C, Kern W, Schnittger S, et al. The influence of age on prognosis of de novo acute myeloid leukemia differs according to cytogenetic subgroups. Haematologica 2004;89:1082-1090.
5. Peterson LF, Boyapati A, Ahn E-Y, et al. Acute myeloid leukemia with the 8q22;21q22 translocation: Secondary mutational events and alternative t(8;21) transcripts. Blood 2007;110:799-805.
6. Peterson LF, Zhang D-E. The 8;21 translocation in leukemogenesis. Oncogene 2004;23:4255-4262.
7. Zhang Y, Strissel P, Strick R, et al. Genomic DNA breakpoints in AML1/RUNX1 and ETO cluster with topoisomerase II DNA cleavage and DNase I hypersensitive sites in t(8;21) leukemia. Proc Natl Acad Sci 2002;99:3070-3075.
8. Tighe JE, Daga A, Calabi F. Translocation breakpoints are clustered on both chromosome 8 and chromosome 21 in the t(8;21) of acute myeloid leukemia. Blood 1993;81:592-596.
9. Xiao Z, Greaves MF, Buffler P, et al. Molecular characterization of genomic AMLI-ETO fusions in childhood leukemia. Leukemia 2001;15:1906-1913.
10. Gabert J, Beillard E, van der Velden VHJ, et al. Standardization and quality control studies of "real-time" quantitative reverse transcriptase polymerase chain reaction of fusion gene transcripts for residual disease detection in leukemia-A Europe Against Cancer Program. Leukemia 2003;17:2318-2357.
11. Wang Q, Stacy T, Binder M, et al. Disruption of the Cbfa2 gene causes necrosis and hemorrhaging in the central nervous system and blocks definitive hematopoiesis. Proc Natl Acad Sci U S A 1996;93:3444-3449.
12. Gilliland DG, Jordan CT, Felix CA. The molecular basis of leukemia. ASH Educ Program Book 2004;2004:80-97.
13. Speck NA, Gilliland DG. Core-binding factors in haematopoiesis and leukaemia. Nat Rev Cancer 2002;2:502-513.
14. Grisolano JL. An activated receptor tyrosine kinase, TEL/PDGFRB, cooperates with AML1/ETO to induce acute myeloid leukemia in mice. Proc Natl Acad Sci 2003;100:9506-9511.
15. Jourdan E, Boissel N, Chevret S, et al. Prospective evaluation of gene mutations and minimal residual disease in patients with core binding factor acute myeloid leukemia. Blood 2013;121:2213-2223.
16. Grimwade D, Hills RK, Moorman AV, et al. Refinement of cytogenetic classification in acute myeloid leukemia: Determination of prognostic significance of rare recurring chromosomal abnormalities among 5876 younger adult patients treated in the United Kingdom Medical Research Council trials. Blood 2010;116:354-365.
17. Nguyen S, Leblanc T, Fenaux P, et al. A white blood cell index as the main prognostic factor in t(8;21) acute myeloid leukemia (AML): A survey of 161 cases from the French AML Intergroup. Blood 2002;99:3517-3523.
18. Appelbaum FR, Kopecky KJ, Tallman MS, et al. The clinical spectrum of adult acute myeloid leukaemia associated with core binding factor translocations. Br J Haematol 2006;135:165-173.
19. Leroy H, de Botton S, Grardel-Duflos N, et al. Prognostic value of real-time quantitative PCR (RQ-PCR) in AML with t(8;21). Leukemia 2005;19:367-372.
20. Liu Yin JA, O'Brien MA, Hills RK, et al. Minimal residual disease monitoring by quantitative RT-PCR in core binding factor AML allows risk stratification and predicts relapse: Results of the United Kingdom MRC AML-15 trial. Blood 2012;120:2826-2835.
21. Zhu H-H, Zhang X-H, Qin Y-Z, et al. MRD-directed risk stratification treatment may improve outcomes of t(8;21) AML in the first complete remission: Results from the AML05 multicenter trial. Blood 2013;121:4056-4062.
22. Asou H, Tashiro S, Hamamoto K, et al. Establishment of a human acute myeloid leukemia cell line (Kasumi-1) with 8; 21 chromosome translocation. Blood 1991;77:2031-2036.
23. Matozaki S, Nakagawa T, Kawaguchi R, et al. Establishment of a myeloid leukaemic cell line (SKNO-1) from a patient with t(8;21) who acquired monosomy 17 during disease progression. Br J Haematol 1995;89:805-811.
24. Langmead B, Trapnell C, Pop M, et al. Ultrafast and memory-efficient alignment of short DNA sequences to the human genome. Genome Biol 2009;10:R25.
25. Van der Velden VHJ, Hochhaus A, Cazzaniga G, et al. Detection of minimal residual disease in hematologic malignancies by real-time quantitative PCR: Principles, approaches, and laboratory aspects. Leukemia 2003;17:1013-1034.
26. Zhang Y, Rowley JD. Chromatin structural elements and chromosomal translocations in leukemia. DNA Repair 2006;5:1282-1297.
27. Ross DM, Branford S, Seymour JF, et al. Patients with chronic myeloid leukemia who maintain a complete molecular response after stopping imatinib treatment have evidence of persistent leukemia by DNA PCR. Leukemia 2010;24:1719-1724.
28. Morschhauser F, Cayuela JM, Martini S, et al. Evaluation of minimal residual disease using reverse-transcription polymerase chain reaction in t(8;21) acute myeloid leukemia: A Multicenter study of 51 patients. J Clin Oncol 2000;18:788-788.