Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes

Blood

Volumn 110, Issue 9, 2007, Pages 3365-3373

  Mohamedali, Azim ^a   Gäken, Joop ^a   Twine, Natalie A ^a   Ingram, Wendy ^a   Westwood, Nigel ^a   Lea, Nicholas C ^a   Hayden, Janet ^a   Donaldson, Nora ^b   Aul, Carlo ^c   Gattermann, Norbert ^d   Giagounidis, Aristotle ^d   Germing, Ulrich ^d   List, Alan F ^e   Mufti, Ghulam J ^a,b  

^a KING'S COLLEGE LONDON   (United Kingdom)

^b KING S COLLEGE HOSPITAL   (United Kingdom)

^c St Johannes Hospital   (Germany)

^d HEINRICH HEINE UNIVERSITY   (Germany)

^e H LEE MOFFITT CANCER CENTER AND RESEARCH INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

5Q- SYNDROME; ADULT; AGED; ALLELIC IMBALANCE; ARTICLE; BLOOD CELL; BONE MARROW CELL; CELL STRUCTURE; CHROMOSOME MARKER; CONTROLLED STUDY; CORRELATION ANALYSIS; CYTOGENETICS; CYTOPATHOLOGY; DIAGNOSTIC APPROACH ROUTE; FEMALE; GENE AMPLIFICATION; GENE DELETION; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; INTERNATIONAL PROGNOSTIC SCORING SYSTEM; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MULTIVARIATE ANALYSIS; MYELODYSPLASTIC SYNDROME; PRIORITY JOURNAL; PROGNOSIS; REFRACTORY ANEMIA; REFRACTORY ANEMIA WITH RINGED SIDEROBLASTS; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA; REFRACTORY CYTOPENIA WITH MULTILINEAGE DYSPLASIA AND RINGED SIDEROBLASTS; RISK ASSESSMENT; SINGLE NUCLEOTIDE POLYMORPHISM; STATISTICAL SIGNIFICANCE; SURVIVAL; UNIPARENTAL DISOMY; UNIVARIATE ANALYSIS;

EID: 36148993604     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2007-03-079673     Document Type: Article

References (39)

1. Delforge M. Understanding the pathogenesis of myelodysplastic syndromes. Hematol J. 2003;4:303-309.
2. Greenberg P, Cox C, LeBeau MM, et al. International scoring system for evaluating prognosis in myelodysplastic syndromes. Blood. 1997;89:2079-2088.
3. Harris NL, Jaffe ES, Diebold J, et al. The World Health Organization classification of neoplastic diseases of the haematopoietic and lymphoid tissues: Report of the Clinical Advisory Committee Meeting, Airlie House, Virginia, November 1997. Histopathology. 2000;36:69-86.
4. Dunkley SM, Manoharan A, Kwan YL. Myelodysplastic syndromes: prognostic significance of multilineage dysplasia in patients with refractory anemia or refractory anemia with ringed sideroblasts. Blood. 2002;99:3870-3871; author reply 3871.
5. Haase D, Germing U, Schanz J, et al. New and comprehensive cytogenetic prognostication and categorization in MDS [abstract]. Blood. 2006;108:248. Abstract 248.
6. Schoch C, Haferlach T, Bursch S, et al. Loss of genetic material is more common than gain in acute myeloid leukemia with complex aberrant karyotype: a detailed analysis of 125 cases using conventional chromosome analysis and fluorescence in situ hybridization including 24-color FISH. Genes Chromosomes Cancer. 2002;35:20-29.
7. Mullighan CG, Goorha S, Radtke I, et al. Genome-wide analysis of genetic alterations in acute lymphoblastic leukaemia. Nature. 2007;446:758-764.
8. Raghavan M, Lillington DM, Skoulakis S, et al. Genome-wide single nucleotide polymorphism analysis reveals frequent partial uniparental disomy due to somatic recombination in acute myeloid leukemias. Cancer Res. 2005;65:375-378.
9. Fitzgibbon J, Smith LL, Raghavan M, et al. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res. 2005;65:9152-9154.
10. Pfeifer D, Pantic M, Skatulla I, et al. Genome-wide analysis of DNA copy number changes and LOH in CLL using high-density SNP arrays. Blood. 2007;109:1202-1210.
11. Walker BA, Leone PE, Jenner MW, et al. Integration of global SNP-based mapping and expression arrays reveals key regions, mechanisms, and genes important in the pathogenesis of multiple myeloma. Blood. 2006;108:1733-1743.
12. Janne PA, Li C, Zhao X, et al. High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines. Oncogene. 2004;23:2716-2726.
13. Jaffe ESH, Stein H, Vardiman JW. WHO Classification of Tumors, Pathology and Genetics of Tumours of Haematopoetic and Lymphoid Tissues. Lyon, France: IARC Press; 2001.
14. Paez JG, Lin M, Beroukhim R, et al. Genome coverage and sequence fidelity of phi29 polymerase-based multiple strand displacement whole genome amplification. Nucleic Acids Res. 2004;32:e71.
15. Nannya Y, Sanada M, Nakazaki K, et al. A robust algorithm for copy number detection using high-density oligonucleotide single nucleotide polymorphism genotyping arrays. Cancer Res. 2005;65:6071-6079.
16. Horrigan SK, Arbieva ZH, Xie HY, et al. Delineation of a minimal interval and identification of 9 candidates for a tumor suppressor gene in malignant myeloid disorders on 5q31. Blood. 2000;95:2372-2377.
17. Boultwood J, Fidler C, Strickson AJ, et al. Narrowing and genomic annotation of the commonly deleted region of the 5q- syndrome. Blood. 2002;99:4638-4641.
18. Zhao N, Stoffel A, Wang PW, et al. Molecular delineation of the smallest commonly deleted region of chromosome 5 in malignant myeloid diseases to 1-1.5 Mb and preparation of a PAC-based physical map. Proc Natl Acad Sci U S A. 1997;94:6948-6953.
19. International HapMap Project. http://www.hapmap.org. Accessed February 26, 2007.
20. Stephens K, Weaver M, Leppig KA, et al. Interstitial uniparental isodisomy at clustered breakpoint intervals is a frequent mechanism of NF1 inactivation in myeloid malignancies. Blood. 2006;108:1684-1689.
21. Ledbetter DH, Engel E. Uniparental disomy in humans: development of an imprinting map and its implications for prenatal diagnosis. Hum Mol Genet. 1995;4 Spec No:1757-1764.
22. Knudson AG. Two genetic hits (more or less) to cancer. Nat Rev Cancer. 2001;1:157-162.
23. Gibson J, Morton NE, Collins A. Extended tracts of homozygosity in outbred human populations. Hum Mol Genet. 2006;15:789-795.
24. Li LH, Ho SF, Chen CH, et al. Long contiguous stretches of homozygosity in the human genome. Hum Mutat. 2006;27:1115-1121.
25. Broman KW, Weber JL. Long homozygous chromosomal segments in reference families from the centre d'Etude du polymorphisme humain. Am J Hum Genet. 1999;65:1493-1500.
26. O'Keefe CL, Gondek LP, Tiu R, et al. Identification of chromosomal abnormalities in healthy bone marrow using 250K SNP arrays [abstract]. Blood. 2006;108:2076. Abstract 2076.
27. Mori N, Morosetti R, Hoflehner E, Lubbert M, Mizoguchi H, Koeffler HP. Allelic loss in the progression of myelodysplastic syndrome. Cancer Res. 2000;60:3039-3042.
28. Gorletta TA, Gasparini P, D'Elios MM, Trubia M, Pelicci PG, Di Fiore PP. Frequent loss of heterozygosity without loss of genetic material in acute myeloid leukemia with a normal karyotype. Genes Chromosomes Cancer. 2005;44:334-337.
29. Kralovics R, Guan Y, Prchal JT. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol. 2002;30:229-236.
30. The GDB Human Genome Database. http://www.gdb.org/gdb. Accessed February 10, 2007.
31. Gumus G, Sunguroglu A, Tukun A, Sayin DB, Bokesoy I. Common fragile sites associated with the breakpoints of chromosomal aberrations in hematologic neoplasms. Cancer Genet Cytogenet. 2002;133:168-171.
32. Yang XP, Inazu A, Yagi K, Kajinami K, Koizumi J, Mabuchi H. Abetalipoproteinemia caused by maternal isodisomy of chromosome 4q containing an intron 9 splice acceptor mutation in the microsomal triglyceride transfer protein gene. Arterioscler Thromb Vasc Biol. 1999;19:1950-1955.
33. Viguie F, Aboura A, Bouscary D, et al. Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement? Leukemia. 2005;19:1411-1415.
34. Intelligent Systems and Bioinformatics Laboratory, Wayne State University, Detroit, MI. Accessed November 28, 2006.
35. Pellagatti A, Cazzola M, Giagounidis AAN, et al. Gene expression profiles of CD34+ cells in myelodysplastic syndromes: involvement of interferon-stimulated genes and correlation to FAB subtype and karyotype. Blood. 2006;108:337-345.
36. The Centre for Applied Genomics. Database of Genomic Variants. http://projects.tcag.ca/variation. Accessed January 19, 2007.
37. LeBrun DP. E2A basic helix-loop-helix transcription factors in human leukemia. Front Biosci. 2003;8:s206-222.
38. Daskalakis M, Mauritzson N, Johansson B, et al. Trisomy 19 as the sole chromosomal abnormality in proliferative chronic myelomonocytic leukemia. Leuk Res. 2006;30:1043-1047.
39. Alvarez S, MacGrogan D, Calasanz MJ, Nimer SD, Jhanwar SC. Frequent gain of chromosome 19 in megakaryoblastic leukemias detected by comparative genomic hybridization. Genes Chromosomes Cancer. 2001;32:285-293.