Molecular characterization of AML with ins(21;8)(q22;q22q22) reveals similarity to t(8;21) AML

Genes Chromosomes and Cancer

Volumn 50, Issue 1, 2011, Pages 51-58

  Rücker, Frank G ^a   Bullinger, Lars ^a   Gribov, Alexander ^b   Sill, Martin ^c   Schlenk, Richard F ^a   Lichter, Peter ^c   Döhner, Hartmut ^a   Döhner, Konstanze ^a  

^a UNIVERSITY HOSPITAL ULM   (Germany)

^b UNIVERSITY OF AUGSBURG   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR RUNX1;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ACUTE GRANULOCYTIC LEUKEMIA; ADULT; ARTICLE; CHROMOSOME 22Q; CHROMOSOME ABERRATION; CHROMOSOME BANDING PATTERN; CHROMOSOME TRANSLOCATION; CLINICAL ARTICLE; CLINICAL TRIAL; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED CLINICAL TRIAL; FEMALE; FUSION GENE; GENE EXPRESSION PROFILING; GENE INSERTION; HUMAN; MALE; MICROARRAY ANALYSIS; MULTICENTER STUDY; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROGNOSIS; RANDOMIZED CONTROLLED TRIAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RISK; SCREENING;

ADULT; CHROMOSOME BREAKPOINTS; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 8; CLUSTER ANALYSIS; COMPARATIVE GENOMIC HYBRIDIZATION; CORE BINDING FACTOR ALPHA 2 SUBUNIT; DATABASES, GENETIC; FEMALE; GENE EXPRESSION PROFILING; GENETIC TECHNIQUES; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; KARYOTYPING; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS; ONCOGENE PROTEINS, FUSION; PROTO-ONCOGENE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRANSCRIPTION FACTORS; TRANSLOCATION, GENETIC;

EID: 78249263824     PISSN: 10452257     EISSN: 10982264     Source Type: Journal    
DOI: 10.1002/gcc.20830     Document Type: Article

References (27)

1. Bloomfield CD, Lawrence D, Byrd JC, Carroll A, Pettenati MJ, Tantravahi R, Patil SR, Davey FR, Berg DT, Schiffer CA, Arthur DC, Mayer RJ. 1998. Frequency of prolonged remission duration after high-dose cytarabine intensification in acute myeloid leukemia varies by cytogenetic subtype. Cancer Res 58: 4173-4179.
2. Bullinger L, Döhner K, Bair E, Fröhling S, Schlenk RF, Tibshirani R, Döhner H, Pollack JR. 2004. Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med 350: 1605-1616.
3. Bullinger L, Rücker FG, Kurz S, Du J, Scholl C, Sander S, Corbacioglu A, Lottaz C, Krauter J, Fröhling S, Ganser A, Schlenk RF, Döhner K, Pollack JR, Döhner H. 2007. Gene-expression profiling identifies distinct subclasses of core binding factor acute myeloid leukemia. Blood 110: 1291-1300.
4. Bullinger L, Kronke J, Schon C, Radtke I, Urlbauer K, Botzenhardt U, Gaidzik V, Cario A, Senger C, Schlenk RF, Downing JR, Holzmann K, Döhner K, Döhner H. 2010. Identification of acquired copy number alterations and uniparental disomies in cytogenetically normal acute myeloid leukemia using high-resolution single-nucleotide polymorphism analysis. Leukemia 24: 438-449.
5. Byrd JC, Dodge RK, Carroll A, Baer MR, Edwards C, Stamberg J, Qumsiyeh M, Moore JO, Mayer RJ, Davey F, Schiffer CA, Bloomfield CD. 1999. Patients with t(8;21)(q22;q22) and acute myeloid leukemia have superior failure-free and overall survival when repetitive cycles of high-dose cytarabine are administered. J Clin Oncol 17: 3767-3775.
6. Byrd JC, Mrozek K, Dodge RK, Carroll AJ, Edwards CG, Arthur DC, Pettenati MJ, Patil SR, Rao KW, Watson MS, Koduru PR, Moore JO, Stone RM, Mayer RJ, Feldman EJ, Davey FR, Schiffer CA, Larson RA, Bloomfield CD. 2002. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: Results from Cancer and Leukemia Group B (CALGB 8461). Blood 100: 4325-4336.
7. Downing JR, Head DR, Curcio-Brint AM, Hulshof MG, Motroni TA, Raimondi SC, Carroll AJ, Drabkin HA, Willman C, Theil KS, Civin CI, Erickson P. 1993. An AML1/ETO fusion transcript is consistently detected by RNA-based polymerase chain reaction in acute myelogenous leukemia containing the (8;21)(q22;q22) translocation. Blood 81: 2860-2865.
8. Fischer K, Scholl C, Salat J, Fröhling S, Schlenk R, Bentz M, Stilgenbauer S, Lichter P, Döhner H. 1996. Design and validation of DNA probe sets for a comprehensive interphase cytogenetic analysis of acute myeloid leukemia. Blood 88: 3962-3971.
9. Fröhling S, Kayser S, Mayer C, Miller S, Wieland C, Skelin S, Schlenk RF, Döhner H, Döhner K. 2005. Diagnostic value of fluorescence in situ hybridization for the detection of genomic aberrations in older patients with acute myeloid leukemia. Haematologica 90: 194-199.
10. Gamerdinger U, Teigler-Schlegel A, Pils S, Bruch J, Viehmann S, Keller M, Jauch A, Harbott J. 2003. Cryptic chromosomal aberrations leading to an AML1/ETO rearrangement are frequently caused by small insertions. Genes Chromosomes Cancer 36: 261-272.
11. Gribov A, Sill M, Lück S, Rücker FG, Döhner K, Bullinger L, Benner A, Unwin A. 2010. Seurat: Visual analytics for the integrated analysis of microarray data. BMC Med Genomics 3: 21.
12. Grimwade D, Walker H, Oliver F, Wheatley K, Harrison C, Harrison G, Rees J, Hann I, Stevens R, Burnett A, Goldstone A. 1998. The importance of diagnostic cytogenetics on outcome in AML: Analysis of 1, 612 patients entered into the MRC AML 10 trial. The Medical Research Council Adult and Children's Leukaemia Working Parties. Blood 92: 2322-2333.
13. Haferlach T, Kohlmann A, Schnittger S, Dugas M, Hiddemann W, Kern W, Schoch C. 2005. Global approach to the diagnosis of leukemia using gene expression profiling. Blood 106: 1189-1198.
14. Marcucci G, Mrozek K, Ruppert AS, Maharry K, Kolitz JE, Moore JO, Mayer RJ, Pettenati MJ, Powell BL, Edwards CG, Sterling LJ, Vardiman JW, Schiffer CA, Carroll AJ, Larson RA, Bloomfield CD. 2005. Prognostic factors and outcome of core binding factor acute myeloid leukemia patients with t(8;21) differ from those of patients with inv(16): A cancer and leukemia group B study. J Clin Oncol 23: 5705-5717.
15. Mrozek K, Prior TW, Edwards C, Marcucci G, Carroll AJ, Snyder PJ, Koduru PR, Theil KS, Pettenati MJ, Archer KJ, Caligiuri MA, Vardiman JW, Kolitz JE, Larson RA, Bloomfield CD. 2001. Comparison of cytogenetic and molecular genetic detection of t(8;21) and inv(16) in a prospective series of adults with de novo acute myeloid leukemia: A cancer and leukemia group B study. J Clin Oncol 19: 2482-2492.
16. Nucifora G, Dickstein JI, Torbenson V, Roulston D, Rowley JD, Vardiman JW. 1994. Correlation between cell morphology and expression of the AML1/ETO chimeric transcript in patients with acute myeloid leukemia without the t(8;21). Leukemia 8: 1533-1538.
17. Okuda T, Cai Z, Yang S, Lenny N, Lyu CJ, van Deursen JM, Harada H, Downing JR. 1998. Expression of a knocked-in AML1-ETO leukemia gene inhibits the establishment of normal definitive hematopoiesis and directly generates dysplastic hematopoietic progenitors. Blood 91: 3134-3143.
18. Rhoades KL, Hetherington CJ, Harakawa N, Yergeau DA, Zhou L, Liu LQ, Little MT, Tenen DG, Zhang DE. 2000. Analysis of the role of AML1-ETO in leukemogenesis, using an inducible transgenic mouse model. Blood 96: 2108-2115.
19. Rücker FG, Bullinger L, Schwaenen C, Lipka DB, Wessendorf S, Fröhling S, Bentz M, Miller S, Scholl C, Schlenk RF, Radlwimmer B, Kestler HA, Pollack JR, Lichter P, Döhner K, Döhner H. 2006a. Disclosure of candidate genes in acute myeloid leukemia with complex karyotypes using microarray-based molecular characterization. J Clin Oncol 24: 3887-3894.
20. Rücker FG, Sander S, Döhner K, Döhner H, Pollack JR, Bullinger L. 2006b. Molecular profiling reveals myeloid leukemia cell lines to be faithful model systems characterized by distinct genomic aberrations. Leukemia 20: 994-1001.
21. Schlenk RF, Benner A, Krauter J, Buchner T, Sauerland C, Ehninger G, Schaich M, Mohr B, Niederwieser D, Krahl R, Pasold R, Döhner K, Ganser A, Döhner H, Heil G. 2004. Individual patient data-based meta-analysis of patients aged 16 to 60 years with core binding factor acute myeloid leukemia: A survey of the German Acute Myeloid Leukemia Intergroup. J Clin Oncol 22: 3741-3750.
22. Schlenk RF, Döhner K, Krauter J, Fröhling S, Corbacioglu A, Bullinger L, Habdank M, Spath D, Morgan M, Benner A, Schlegelberger B, Heil G, Ganser A, Döhner H. 2008. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 358: 1909-1918.
23. Specchia G, Albano F, Anelli L, Zagaria A, Liso A, La Starza R, Mancini M, Sebastio L, Giugliano E, Saglio G, Liso V, Rocchi M. 2004. Insertions generating the 5'RUNX1/3'CBFA2T1 gene in acute myeloid leukemia cases show variable breakpoints. Genes Chromosomes Cancer 41: 86-91.
24. Taviaux S, Brunel V, Dupont M, Fernandez F, Ferraz C, Carbuccia N, Sainty D, Demaille J, Birg F, Lafage-Pochitaloff M. 1999. Simple variant t(8;21) acute myeloid leukemias harbor insertions of the AML1 or ETO genes. Genes Chromosomes Cancer 24: 165-171.
25. Valk PJ, Verhaak RG, Beijen MA, Erpelinck CA, Barjesteh van Waalwijk van Doorn-Khosrovani S, Boer JM, Beverloo HB, Moorhouse MJ, van der Spek PJ, Lowenberg B, Delwel R. 2004. Prognostically useful gene-expression profiles in acute myeloid leukemia. N Engl J Med 350: 1617-1628.
26. Walter MJ, Payton JE, Ries RE, Shannon WD, Deshmukh H, Zhao Y, Baty J, Heath S, Westervelt P, Watson MA, Tomasson MH, Nagarajan R, O'Gara BP, Bloomfield CD, Mrózek K, Selzer RR, Richmond TA, Kitzman J, Geoghegan J, Eis PS, Maupin R, Fulton RS, McLellan M, Wilson RK, Mardis ER, Link DC, Graubert TA, DiPersio JF, Ley TJ. 2009. Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci USA 106: 12950-12955.
27. Yuan Y, Zhou L, Miyamoto T, Iwasaki H, Harakawa N, Hetherington CJ, Burel SA, Lagasse E, Weissman IL, Akashi K, Zhang DE. 2001. AML1-ETO expression is directly involved in the development of acute myeloid leukemia in the presence of additional mutations. Proc Natl Acad Sci USA 98: 10398-10403.