Interstitial deletion constitutes the major mechanism for loss of heterozygosity on chromosome 20q in polycythemia vera

Blood

Volumn 88, Issue 7, 1996, Pages 2690-2698

  Asimakopoulos, Fotios A ^b   Gilbert, James G R ^b   Aldred, Micheala A ^b   Pearson, Thomas C ^b   Green, Anthony R ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CHROMOSOME 20Q; CHROMOSOME LOSS; CLINICAL ARTICLE; CONTROLLED STUDY; GRANULOCYTE; HUMAN; HUMAN CELL; INTERSTITIAL CHROMOSOME DELETION; POLYCYTHEMIA VERA; PRIORITY JOURNAL; X CHROMOSOME INACTIVATION;

EID: 0029842073     PISSN: 00064971     EISSN: None     Source Type: Journal    
DOI: 10.1182/blood.v88.7.2690.bloodjournal8872690     Document Type: Article

References (49)

1. Kay HEM, Lawler SD, Millard RE: The chromosomes in polycythaemia vera. Br J Haematol 12:507, 1966
2. Rege-Cambrin G, Mecucci C, Tricot G, Michaux JL, Louwagie A, Van Hove W, Francart H, van den Berghe H: A chromosomal profile of polycythaemia. Cancer Genet Cytogenet 25:235, 1987
3. Swolin B, Weinfeld A, Westin J: A prospective long-term cytogenetic study in polycythaemia vera in relation to treatment and clinical course. Blood 72:386, 1988
4. Diez-Martin JL, Graham DL, Pettit RM, Dewald GW: Chromosome studies in 104 patients with polycythaemia vera. Mayo Clin Proc 66:287, 1991
5. Mertens F, Johanssen B, Heim S, Kristoffersson U, Mitelman F: Karyotypic patterns in chronic myeloproliferative disorders: Report on 74 cases and review of the literature. Leukemia 5:214, 1991
6. Knapp RH, Dewald GW, Pierre RV: Cytogenetic studies in 174 consecutive patients with preleukemia or myelodysplastic syndromes. Mayo Clin Proc 60:507, 1985
7. Mufti GJ: Chromosomal deletions in the myelodysplastic syndrome. Leuk Res 16:35, 1992
8. Mittelman F: Catalog of Chromosome Aberrations in Cancer. New York, NY, Wiley-Liss, 1991
9. Nacheva E, Holloway T, White N, Carter N, Grace C, Green AR: Characterization of chromosome 20q deletions in patients with myeloproliferative disorders or myelodysplastic syndromes. Cancer Genet Cytogenet 80:87, 1995
10. Asimakopoulos FA, White NJ, Nacheva E, Green AR: Molecular analysis of chromosome 20q deletions associated with myeloproliferative disorders and myelodysplastic syndromes. Blood 84:3086, 1994
11. Ponder B: Gene losses in human tumours. Nature 335:400, 1988
12. Patterson H: Approaches to proto-oncogene and tumour suppressor gene identification. Eur J Cancer 28A:278, 1992
13. Lasko D, Cavenee W, Nordenskjold M: Loss of constitutional heterozygosity in human cancer. Annu Rev Genet 25:281, 1991
14. Levine A: The tumor suppressor genes. Annu Rev Biochem 62:623, 1993
15. Hansen MF, Cavenee WK: Genetics of cancer predisposition. Cancer Res 47:5518, 1987
16. James CD, Carlbom E, Dumanski JP, Hansen M, Nordenskjold M, Collins VP, Cavenee WK: Clonal genomic alterations in glioma malignancy stages. Cancer Res 48:5546, 1988
17. James CD, Carlbom E, Collins VP, Cavenee WK: Mitotic recombination of chromosome 17 in astrocytomas. Proc Natl Acad Sci USA 86:2858, 1989
18. Mulligan LM, Matlashewski GJ, Scrable HJ, Cavenee WK: Mechanisms of p53 loss in human sarcomas. Proc Natl Acad Sci USA 87:5863, 1990
19. Scrable HJ, Witte DP, Lampkin BC, Cavenee WK: Chromosomal localisation of the human rhabdomyosarcoma locus by mitotic recombination mapping. Nature 329:645, 1987
20. Wooster R, Cleton-Jansen AM, Collins N, Mangion J, Cornells RS, Coper CS, Gusterson BA, Ponder BAJ, von Deimling A, Wiestler OD, Cornelisse CJ, Devilee P, Stratton MR: Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet 6:152, 1994
21. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin JP, Jarvinen H, Powell SM, Jen J, Hamilton R, Petersen GM, Kinzler KW, Vogelstein B, de la Chapelle A: Clues to the pathogenesis of familial colorectal cancer. Science 260:812, 1993
22. Robledo M, Martinez B, Arranz E, Trujillo MJ, Gonzalez Ageitos A, Rivas C, Benitez J: Genetic instability of microsatellites in hematological neoplasms. Leukemia 9:960, 1995
23. Hubner G, Battmer K, Paaz U, Link H: Monitoring of relapse and remission in acute leukaemias by DNA fingerprint analysis. Br J Haematol 85:320, 1993
24. Kaneko H, Horiike S, Inazawa J, Nakai H, Misawa S: Microsatellite instability is an early event in the myelodysplastic syndrome (letter). Blood 86:1236, 1995
25. Wada C, Shionoya S, Fujino Y, Tokuhiro H, Akahoshi T, Uchida T, Ohtani H: Genomic instability of microsatellite repeats and its association with the evolution of chronic myelogenous leukemia. Blood 83:3449, 1994
26. Neuman WL, Rubin CM, Rios RB, Larson RA, LeBeau MM, Rowley JD, Vardiman JW, Schwartz JL, Farber RA: Chromosomal loss and deletion are the most common mechanisms for loss of heterozygosity from chromosomes 5 and 7 in malignant myeloid disorders. Blood 79:1501, 1992
27. Shepherd L, Cameron C, Galbraith P, Windsor S, Lillicrap D: Absence of allelic loss on chromosome 5q by RFLP analysis in preleukaemia. Leuk Res 15:297, 1991
28. Allen RC, Zogbi Hy, Moseley AB, Rosenblatt HM, Belmont JW: Methylation of Hpa II and Hha I sites near the polymorphic CAG repeat in the human androgen receptor gene correlates with X chromosome inactivation. Am J Hum Genet 51:1229, 1992
29. Gyapay G, Morissette J, Vignal A, Dib C, Fizames C, Millasseau P, Marc S, Bernardi G, Lathrop M, Weissenbach J: The 1993-94 Généthon human genetic linkage map. Nature Genet 7:246, 1994
30. Matise TC, Prlin M, Chakravarti A: Automated construction of genetic linkage maps using an expert system (Multimap): A human genome linkage map. Nature Genet 6:384, 1994
31. Buetow KH, Weber JL, Ludwigsen S, Scherpbier-Heddema T, Duyk GM, Sheffield VC, Wang Z, Murray JC: Integrated human genome-wide maps constructed using the CEPH reference panel. Nature Genet 6:391, 1994
32. Wunderle V, Dib C, Fizames C, Morissette J, Hazan J, Hansmann I, Whitehouse D, Vergnaud G, Weissenbach J: The EURO-GEM map of human chromosome 20. Eur J Hum Genet 2:242, 1994
33. Rothchild CB, Akots G, Hayworth R, Pettenati MJ, Rao PN, Wood P, Stolz F-M, Hansmann I, Serino K, Keith TP, Fajans SS, Bowden DW: A genetic map of chromosome 20q12-q13.l: Multiple highly polymorphic microsatellite and RFLP markers linked to the maturity-onset diabetes of the young (MODY) locus. Am J Hum Genet 52:110, 1993
34. Smith CL, Keith T, Hansmann I, Weissenbach J, Asimakopoulos FA, Bowden DW, Deleuze JF, Dutton ER, Fasman KH, Green T, Hadchouel M, Hazan J, Hilgartner S, Kingsbury DK, Loder B, Malafosse A, Meunier-Rotival M, Pearson PL, Siracusa LD, Steinlein O, White N, Williamson CM: Report of the first international workshop on human chromosome 20 mapping 1993. Cytogenet Cell Genet 66:78, 1994
35. Roulston D, Espinosa R, Stoffel M, Bell GI, LeBeau MM: Molecular genetics of myeloid leukaemia: Identification of the commonly deleted segment of chromosome 20. Blood 82:3424, 1993
36. Gilliland DG, Blanchard KL, Levy J, Perrin S, Bunn HF: Clonality in myeloproliferative disorders: Analysis by means of the polymerase chain reaction. Proc Natl Acad Sci USA 88:6848, 1991
37. Busque L, Zhu J, DeHart D, Griffith B, Willman C, Carroll R, McBlack P, Gilliland DG: An expression based clonality assay at the human androgen receptor locus (HUMARA) on chromosome X. Nucleic Acids Res 22:697, 1994
38. Adams RLP, Knowler JT, Leader DP: The Biochemistry of the Nucleic Acids. London, UK, Chapman and Hall, 1986
39. Gale RE, Wheedon H, Linch DC: X chromosome inactivation patterns using HPRT and PGK polymorphisms in haematologically normal and post-chemotherapy females. Br J Haematol 79:193, 1991
40. Gale RE, Wainscoat JS: Clonal analysis using X-linked DNA polymorphisms. Br J Haematol 85:2, 1993
41. Busque L, Gilliland DG: Clonal evolution in acute myeloid leukemia. Blood 82:337, 1993
42. Anger B, Janssen JWG, Schrezenmeier H, Hehlmann R, Heimpel H, Bartram CR: Clonal analysis in chronic myeloproliferative disorders using X-linked DNA polymorphisms Leukemia 4:258, 1990
43. Lucas GS, Padua RA, Masters GS, Oscier DG, Jacobs A: The application of X chromosome gene probes to the diagnosis of myeloproliferative disease. Br J Haematol 72:530, 1989
44. Taylor KM, Shetta M, Talpaz M, Kantarjian HM, Hardikar S, Chinault AC, McCredie KB, Spitzer G: Myeloproliferative disorders: Usefulness of X-linked probes in diagnosis. Leukemia 3:419, 1989
45. Asimakopoulos FA, Holloway TL, Nacheva EP, Scott MA, Fenaux P, Green AR: Detection of chromosome 20q deletions in bone marrow metaphases but not peripheral blood granulocytes in patients with myeloproliferative disorders or myelodysplastic syndromes. Blood 87:1561, 1996
46. Tsukamoto N, Morita K, Maehara T, Okamoto K, Sakai H, Karasawa M, Naruse T, Omine M: Clonality in chronic myeloproliferative disorders defined by X chromosome linked probes: Demonstration of heterogeneity in lineage involvement. Br J Haematol 86:253, 1994
47. Tan SS, Williams EA, Tam PPL: X-chromosome inactivation occurs at different times in different tissues of the postimplantation mouse embryo. Nature Genet 3:170, 1993
48. Gale RE, Wheadon H, Boulos B, Linch DC: Tissue specificity of X chromosome inactivation patterns. Blood 83:2899, 1994
49. Hughes A: Optimization of microsatellite analysis for genetic mapping. Genomics 15:433, 1993