Isolated trisomy 13 defines a homogeneous AML subgroup with high frequency of mutations in spliceosome genes and poor prognosis

Blood

Volumn 124, Issue 8, 2014, Pages 1304-1311

  Herold, Tobias ^a,b,c   Metzeler, Klaus H ^a,b,c   Vosberg, Sebastian ^a,b,c   Hartmann, Luise ^a,b,c   Rol̈lig, Christoph ^c,d   Stol̈zel, Friedrich ^d   Schneider, Stephanie ^a   Hubmann, Max ^a,b   Zellmeier, Evelyn ^a   Ksienzyk, Bianka ^a   Jurinovic, Vindi ^e   Pasalic, Zlatana ^a   Kakadia, Purvi M ^f   Dufour, Annika ^a   Graf, Alexander ^e   Krebs, Stefan ^e   Blum, Helmut ^e   Sauerland, Maria Cristina ^g   Buc̈hner, Thomas ^g   Berdel, Wolfgang E ^g   Woermann, Bernhard J ^h   Bornhaüser, Martin ^c,d   Ehninger, Gerhard ^c,d   Mansmann, Ulrich ^c,e   Hiddemann, Wolfgang ^a,b,c   Bohlander, Stefan K ⁱ   Spiekermann, Karsten ^a,b,c   Greif, Philipp A ^a,b,c   more..

^a LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^b INSTITUTE OF EPIDEMIOLOGY   (Germany)

^c GERMAN CANCER RESEARCH CENTER DKFZ   (Germany)

^d UNIVERSITY HOSPITAL CARL GUSTAV CARUS   (Germany)

^e UNIVERSITY OF MUNICH   (Germany)

^f PHILIPPS UNIVERSITY MARBURG   (Germany)

^g UNIVERSITY OF MÜNSTER   (Germany)

^h German Society of Hematology and Oncology   (Germany)

ⁱ UNIVERSITY OF AUCKLAND   (New Zealand)

Author keywords

[No Author keywords available]

Indexed keywords

ASXL1 PROTEIN; BCOR PROTEIN; FLT3 LIGAND; POLYCOMB GROUP PROTEIN; PROTEIN; SRSF2 PROTEIN; TRANSCRIPTION FACTOR FKHR; TRANSCRIPTION FACTOR RUNX1; UNCLASSIFIED DRUG;

ACUTE MYELOBLASTIC LEUKEMIA; ADULT; AGED; ARTICLE; CANCER PATIENT; CANCER PROGNOSIS; CANCER SURVIVAL; CLINICAL ARTICLE; CLINICAL TRIAL (TOPIC); CODON; CONTROLLED STUDY; DOWN REGULATION; EXOME; FEMALE; GENE CLUSTER; GENE EXPRESSION PROFILING; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; HETEROZYGOTE; HUMAN; MALE; MUTATIONAL ANALYSIS; OVERALL SURVIVAL; PRIORITY JOURNAL; RECURRENCE FREE SURVIVAL; SPLICEOSOME; TRISOMY 13; UPREGULATION; VERY ELDERLY;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; CHROMOSOMES, HUMAN, PAIR 13; DISEASE-FREE SURVIVAL; FEMALE; GENE EXPRESSION REGULATION, LEUKEMIC; GERMANY; HUMANS; LEUKEMIA, MYELOID, ACUTE; MALE; MIDDLE AGED; NEOPLASM PROTEINS; SURVIVAL RATE; TRISOMY; UP-REGULATION;

EID: 84907303242     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2013-12-540716     Document Type: Article

References (44)

1. Mesa RA, Hanson CA, Ketterling RP, Schwager S, Knudson RA, Tefferi A. Trisomy 13: prevalence and clinicopathologic correlates of another potentially lenalidomide-sensitive cytogenetic abnormality. Blood. 2009;113(5):1200-1201.
2. Grimwade D, Hills RK, Moorman AV, et al; National Cancer Research Institute Adult Leukaemia Working Group. 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(3):354-365.
3. Baer MR, Bloomfield CD. Trisomy 13 in acute leukemia. Leuk Lymphoma. 1992;7(1-2):1-6.
4. Döhner H, Arthur DC, Ball ED, et al. Trisomy 13: a new recurring chromosome abnormality in acute leukemia. Blood. 1990;76(8):1614-1621. (Pubitemid 20364027)
5. Döhner H, Estey EH, Amadori S, et al; European LeukemiaNet. Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood. 2010;115(3):453-474.
6. 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):1123-1126. (Pubitemid 350144221)
7. Dicker F, Haferlach C, Kern W, Haferlach T, Schnittger S. Trisomy 13 is strongly associated with AML1/RUNX1 mutations and increased FLT3 expression in acute myeloid leukemia. Blood. 2007;110(4):1308-1316. (Pubitemid 47281430)
8. Fehniger TA, Byrd JC, Marcucci G, et al. Single-agent lenalidomide induces complete remission of acute myeloid leukemia in patients with isolated trisomy 13. Blood. 2009;113(5):1002-1005.
9. Ganmore I, Smooha G, Izraeli S. Constitutional aneuploidy and cancer predisposition. Hum Mol Genet. 2009;18(R1):R84-R93.
10. Wechsler J, Greene M, McDevitt MA, et al. Acquired mutations in GATA1 in the megakaryoblastic leukemia of Down syndrome. Nat Genet. 2002;32(1):148-152. (Pubitemid 34977210)
11. Baty BJ, Blackburn BL, Carey JC. Natural history of trisomy 18 and trisomy 13: I. Growth, physical assessment, medical histories, survival, and recurrence risk. Am J Med Genet. 1994;49(2):175-188. (Pubitemid 24018129)
12. Satge D, Van Den Berghe H. Aspects of the neoplasms observed in patients with constitutional autosomal trisomy. Cancer Genet Cytogenet. 1996;87(1):63-70. (Pubitemid 26113608)
13. Schade H, Schoeller L, Schultze KW. [D-trisomy (Paetau syndrome) with congenital myeloid leukemia]. Med Welt. 1962;50:2690-2692.
14. Schaich M, Parmentier S, Kramer M, et al. Highdose cytarabine consolidation with or without additional amsacrine and mitoxantrone in acute myeloid leukemia: results of the prospective randomized AML2003 trial. J Clin Oncol. 2013;31(17):2094-2102.
15. Schaich M, Röllig C, Soucek S, et al. Cytarabine dose of 36 g/m compared with 12 g/m within first consolidation in acute myeloid leukemia: results of patients enrolled onto the prospective randomized AML96 study. J Clin Oncol. 2011;29(19):2696-2702.
16. Rollig C, Kramer M, Hanel M, et al. Induction treatment in elderly patients with acute myeloid leukemia (AML): randomized comparison of intermediate-dose cytarabine plus mitoxantrone (IMA) versus standard-dose cytarabine plus daunorubicin (DA) in 492 AML patients >60 years - Results from the SAL 60plus trial [abstract]. Blood (ASH Annual Meeting Abstracts). 2010;116(21). Abstract 334.
17. Büchner T, Berdel WE, Schoch C, 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):2480-2489. (Pubitemid 46655599)
18. Opatz S, Polzer H, Herold T, et al. Exome sequencing identifies recurring FLT3 N676K mutations in core-binding factor leukemia. Blood. 2013;122(10):1761-1769.
19. Greif PA, Dufour A, Konstandin NP, et al. GATA2 zinc finger 1 mutations associated with biallelic CEBPA mutations define a unique genetic entity of acute myeloid leukemia. Blood. 2012;120(2):395-403.
20. Li H, Durbin R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics. 2009;25(14):1754-1760.
21. Li H, Handsaker B, Wysoker A, et al; 1000 Genome Project Data Processing Subgroup. The Sequence Alignment/Map format and SAMtools. Bioinformatics. 2009;25(16):2078-2079.
22. McKenna A, Hanna M, Banks E, et al. The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res. 2010;20(9):1297-1303.
23. Koboldt DC, Chen K, Wylie T, et al. VarScan: variant detection in massively parallel sequencing of individual and pooled samples. Bioinformatics. 2009;25(17):2283-2285.
24. Ye K, Schulz MH, Long Q, Apweiler R, Ning Z. Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads. Bioinformatics. 2009;25(21):2865-2871.
25. Koboldt DC, Zhang Q, Larson DE, et al. VarScan 2: somatic mutation and copy number alteration discovery in cancer by exome sequencing. Genome Res. 2012;22(3):568-576.
26. Li Z, Herold T, He C, et al. Identification of a 24-gene prognostic signature that improves the European LeukemiaNet risk classification of acute myeloid leukemia: an international collaborative study. J Clin Oncol. 2013;31(9):1172-1181.
27. Herold T, Jurinovic V, Metzeler KH, et al. An eight-gene expression signature for the prediction of survival and time to treatment in chronic lymphocytic leukemia. Leukemia. 2011;25(10):1639-1645.
28. Subramanian A, Tamayo P, Mootha VK, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci USA. 2005;102(43):15545-15550. (Pubitemid 41528093)
29. Herold T, Jurinovic V, Mulaw M, et al. Expression analysis of genes located in the minimally deleted regions of 13q14 and 11q22-23 in chronic lymphocytic leukemia-unexpected expression pattern of the RHO GTPase activator ARHGAP20. Genes Chromosomes Cancer. 2011;50(7):546-558.
30. Toedling J, Schmeier S, Heinig M, Georgi B, Roepcke S. MACAT - microarray chromosome analysis tool. Bioinformatics. 2005;21(9):2112-2113. (Pubitemid 40668060)
31. R Development Core Team (2008). R: a language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0, www.R-project.org.
32. Benjamini Y, Hochberg Y. Controlling the false discovery rate: a practical and powerful approach to multiple testing. J R Stat Soc, B. 1995;57(1):289-300.
33. Cheson BD, Bennett JM, Kopecky KJ, et al; International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia. Revised recommendations of the International Working Group for Diagnosis, Standardization of Response Criteria, Treatment Outcomes, and Reporting Standards for Therapeutic Trials in Acute Myeloid Leukemia [published correction appears in J Clin Oncol. 2004;22(3):576]. J Clin Oncol. 2003;21(24):4642-4649. (Pubitemid 46594039)
34. Greif PA, Konstandin NP, Metzeler KH, et al. RUNX1 mutations in cytogenetically normal acute myeloid leukemia are associated with a poor prognosis and up-regulation of lymphoid genes. Haematologica. 2012;97(12):1909-1915.
35. Thol F, Kade S, Schlarmann C, et al. Frequency and prognostic impact of mutations in SRSF2, U2AF1, and ZRSR2 in patients with myelodysplastic syndromes. Blood. 2012;119(15):3578-3584.
36. Yoshida K, Sanada M, Shiraishi Y, et al. Frequent pathway mutations of splicing machinery in myelodysplasia. Nature. 2011;478(7367):64-69.
37. Otrock ZK, Przychodzen BP, Husseinzadeh HD, et al. Molecular predictors of response to lenalidomide in myeloid malignancies. Blood. 2013;122(21): Abstract 2807.
38. Cancer Genome Atlas Research Network. Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. N Engl J Med. 2013;368(22):2059-2074.
39. Trinh DL, Scott DW, Morin RD, et al. Analysis of FOXO1 mutations in diffuse large B-cell lymphoma. Blood. 2013;121(18):3666-3674.
40. Sykes SM, Lane SW, Bullinger L, et al. AKT/FOXO signaling enforces reversible differentiation blockade in myeloid leukemias [published correction appears in Cell. 2011;147(1):247]. Cell. 2011;146(5):697-708.
41. Kwak HJ, Kim YJ, Chun KR, et al. Downregulation of Spry2 by miR-21 triggers malignancy in human gliomas. Oncogene. 2011;30(21):2433-2442.
42. Fritzsche S, Kenzelmann M, Hoffmann MJ, et al. Concomitant down-regulation of SPRY1 and SPRY2 in prostate carcinoma. Endocr Relat Cancer. 2006;13(3):839-849. (Pubitemid 44763260)
43. Fong CW, Chua MS, McKie AB, et al. Sprouty 2, an inhibitor of mitogen-activated protein kinase signaling, is down-regulated in hepatocellular carcinoma. Cancer Res. 2006;66(4):2048-2058.
44. Lo TL, Yusoff P, Fong CW, et al. The ras/mitogen-activated protein kinase pathway inhibitor and likely tumor suppressor proteins, sprouty 1 and sprouty 2 are deregulated in breast cancer. Cancer Res. 2004;64(17):6127-6136. (Pubitemid 39129413)