Myelofibrosis in Philadelphia chromosome-negative myeloproliferative neoplasms is associated with aberrant karyotypes

Cancer Genetics

Volumn 206, Issue 4, 2013, Pages 116-123

  Hauck, Gesa ^a   Jonigk, Danny ^a   Göhring, Gudrun ^a   Kreipe, Hans ^a   Hussein, Kais ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

Author keywords

Chromosomal defect; Chromosome; ERCC1; Fibrosis; MPN; Myeloproliferative neoplasm

Indexed keywords

EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 1; LIG4 PROTEIN; NUCLEAR PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; CHROMOSOMAL INSTABILITY; CHROMOSOME ANALYSIS; CONTROLLED STUDY; DISEASE COURSE; HISTOPATHOLOGY; HUMAN; HUMAN TISSUE; KARYOTYPING; MAJOR CLINICAL STUDY; MYELOID METAPLASIA; MYELOPROLIFERATIVE NEOPLASM; PATHOGENESIS; PHILADELPHIA CHROMOSOME NEGATIVE CELL; PRIORITY JOURNAL; PROTEIN EXPRESSION; THROMBOCYTHEMIA;

DNA LIGASES; DNA REPAIR; DNA-BINDING PROTEINS; ENDONUCLEASES; HUMANS; KARYOTYPING; MYELOPROLIFERATIVE DISORDERS; PHILADELPHIA CHROMOSOME; PRIMARY MYELOFIBROSIS;

EID: 84878999980     PISSN: 22107762     EISSN: 22107770     Source Type: Journal    
DOI: 10.1016/j.cancergen.2013.02.002     Document Type: Article

References (42)

1. Haferlach T., Bacher U., Kern W., et al. The diagnosis of BCR/ABL-negative chronic myeloproliferative diseases (CMPD): a comprehensive approach based on morphology, cytogenetics, and molecular markers. Ann Hematol 2008, 87:1-10.
2. Hussein K., Bock O., Kreipe H. Histological and molecular classification of chronic myeloproliferative disorders in the age of JAK2: persistence of old questions despite new answers. Pathobiology 2007, 74:72-80.
3. Göhring G., Lange K., Hofmann W., et al. Telomere shortening, clonal evolution and disease progression in myelodysplastic syndrome patients with 5q deletion treated with lenalidomide. Leukemia 2012, 26:356-358.
4. Lange K., Holm L., Vang Nielsen K., et al. Telomere shortening and chromosomal instability in myelodysplastic syndromes. Genes Chromosomes Cancer 2010, 49:260-269.
5. Bernard L., Belisle C., Mollica L., et al. Telomere length is severelyand similarly reduced in JAK2V617F-positive and -negative myeloproliferative neoplasms. Leukemia 2009, 23:287-291.
6. Bock O., Serinsöz E., Schlué J., et al. Different expression levelsof the telomerase catalytic subunit hTERT in myeloproliferative and myelodysplastic diseases. Leuk Res 2004, 28:457-460.
7. Bacher U., Schnittger S., Kern W., et al. Distribution of cytogenetic abnormalities in myelodysplastic syndromes, Philadelphia negative myeloproliferative neoplasms, and the overlap MDS/MPN category. Ann Hematol 2009, 88:1207-1213.
8. Schlegelberger B., Göhring G., Thol F., et al. Update on cytogenetic and molecular changes in myelodysplastic syndromes. Leuk Lymphoma 2012, 53:525-536.
9. Plo I., Nakatake M., Malivert L., et al. JAK2 stimulates homologous recombination and genetic instability: potential implication in the heterogeneity of myeloproliferative disorders. Blood 2008, 112:1402-1412.
10. Gregg S.Q., Robinson A.R., Niedernhofer L.J. Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease. DNA Repair (Amst) 2011, 10:781-791.
11. Rahn J.J., Adair G.M., Nairn R.S. Multiple roles of ERCC1-XPF in mammalian interstrand crosslink repair. Environ Mol Mutagen 2010, 51:567-581.
12. Sengerová B., Wang A.T., McHugh P.J. Orchestrating the nucleases involved in DNA interstrand cross-link (ICL) repair. Cell Cycle 2011, 10:3999-4008.
13. Ruzankina Y., Asare A., Brown E.J. Replicative stress, stem cells and aging. Mech Ageing Dev 2008, 129:460-466.
14. Chistiakov D.A., Voronova N.V., Chistiakov A.P. Ligase IV syndrome. Eur J Med Genet 2009, 52:373-378.
15. Hubner R.A., Riley R.D., Billingham L.J., et al. Excision repair cross-complementation group 1 (ERCC1) status and lung cancer outcomes: a meta-analysis of published studies and recommendations. PLoS One 2011, 6:e25164.
16. Hayes M., Lan C., Yan J., et al. ERCC1 expression and outcomes in head and neck cancer treated with concurrent cisplatin and radiation. Anticancer Res 2011, 31:4135-4139.
17. Kawashima A., Takayama H., Tsujimura A. AReview of ERCC1 Gene in Bladder Cancer: Implications for Carcinogenesis andResistance to Chemoradiotherapy. Adv Urol 2012, 2012:812398.
18. Bohanes P., Labonte M.J., Lenz H.J. Areview of excision repaircross-complementation group 1 in colorectal cancer. Clin Colorectal Cancer 2011, 10:157-164.
19. Kracmarova A., Cermak J., Brdicka R., et al. High expression of ERCC1, FLT1, NME4 and PCNA associated with poor prognosis and advanced stages in myelodysplastic syndrome. Leuk Lymphoma 2008, 49:1297-1305.
20. Cramer K., Nieborowska-Skorska M., Koptyra M., et al. BCR/ABLand other kinases from chronic myeloproliferative disorders stimulate single-strand annealing, an unfaithful DNAdouble-strand break repair. Cancer Res 2008, 68:6884-6888.
21. Sallmyr A., Tomkinson A., Rassool F. Up-regulation of WRN and DNA ligase IIIalpha in chronic myeloid leukemia: consequences for the repair of DNA double-strand breaks. Blood 2008, 112:1413-1423.
22. WHO classification of tumours of haematopoetic and lymphoid tissues 2008, IARC, Lyon. S.H. Swerdlow, E. Campo, N.L. Harris (Eds.).
23. Schlegelberger B., Metzke S., Harder S., et al. Classicalandmolecular cytogenetics of tumor cells. Cytogenetics 1999, 151-185. Springer-Verlag, New York. R. Wegener (Ed.).
24. ISCN 2009: an international system for human cytogenetic nomenclature 2009, Karger, Basel. L.G. Shaffer, M.L. Slovak, L.J. Campbell (Eds.).
25. Gadzicki D., von Neuhoff N., Steinemann D., et al. BCR-ABL gene amplification and overexpression in a patient with chronic myeloid leukemia treated with imatinib. Cancer Genet Cytogenet 2005, 159:164-167.
26. Hussein K., Bock O., Theophile K., et al. JAK2(V617F) allele burden discriminates essential thrombocythemia from a subset of prefibrotic-stage primary myelofibrosis. Exp Hematol 2009, 37:1186-1193.e7.
27. Hussein K., Theophile K., Büsche G., et al. Significant inversecorrelation of microRNA-150/MYB and microRNA-222/p27 inmyelodysplastic syndrome. Leuk Res 2010, 34:328-334.
28. -δδCT Method. Methods 2001, 25:402-408.
29. Gangat N., Tefferi A., Thanarajasingam G., et al. Cytogeneticabnormalities in essential thrombocythemia: prevalence andprognostic significance. Eur J Haematol 2009, 83:17-21.
30. Yhim H.Y., Kim H.S., Sohn J.Y., et al. JAK2 V617F-positive essential thrombocythemia in a patient with Klinefelter syndrome: a case report. Cancer Genet Cytogenet 2010, 198:162-165.
31. Kumar S., Menke D.M., Dewald G.W., et al. Agnogenic myeloid metaplasia associated with Klinefelter syndrome: a case report. Ann Hematol 2002, 81:215-218.
32. Keung Y.K., Buss D., Chauvenet A., et al. Hematologic malignancies and Klinefelter syndrome. A chance association?. Cancer Genet Cytogenet 2002, 139:9-13.
33. Hussein K., Van Dyke D.L., Tefferi A. Conventional cytogenetics in myelofibrosis: literature review and discussion. Eur J Haematol 2009, 82:329-338.
34. Kreipe H., Hussein K., Göhring G., et al. Progression of myeloproliferative neoplasms to myelofibrosis and acute leukaemia. JHematopathol 2011, 4:61-68.
35. Nguyen-Khac F., Lesty C., Eclache V., et al. Chromosomal abnormalities in transformed Ph-negative myeloproliferative neoplasms are associated to the transformation subtype andindependent of JAK2 and the TET2 mutations. Genes Chromosomes Cancer 2010, 49:919-927.
36. Hussain F.T., Nguyen E.P., Raza S., et al. Sole abnormalities of chromosome 7 in myeloid malignancies: spectrum, histopathologic correlates, and prognostic implications. Am J Hematol 2012, 87:684-686.
37. Douet-Guilbert N., Basinko A., Morel F., et al. Chromosome 20deletions in myelodysplastic syndromes and Philadelphia-chromosome-negative myeloproliferative disorders: characterization by molecular cytogenetics of commonly deleted and retained regions. Ann Hematol 2008, 87:537-544.
38. Hussein K., Huang J., Lasho T., et al. Karyotype complements the International Prognostic Scoring System for primary myelofibrosis. Eur J Haematol 2009, 82:255-259.
39. Tefferi A., Sirhan S., Sun Y., et al. Oligonucleotide array CGHstudies in myeloproliferative neoplasms: comparison with JAK2V617F mutational status and conventional chromosome analysis. Leuk Res 2009, 33:662-664.
40. Burke B.A., Carroll M. BCR-ABL: a multi-faceted promoter of DNA mutation in chronic myelogeneous leukemia. Leukemia 2010, 24:1105-1112.
41. Dunlap J., Kelemen K., Leeborg N., et al. Association ofJAK2mutation status and cytogenetic abnormalities inmyeloproliferativeneoplasms and myelodysplastic/myeloproliferativeneoplasms. Am J Clin Pathol 2011, 135:709-719.
42. Leon A., Staropoli J.F., Hernandez J.M., et al. Translocation t(1;9)is a recurrent cytogenetic abnormality associated with progression of essential thrombocythemia patients displayingthe JAK2 V617F mutation. Leuk Res 2011, 35:1188-1192.