Acquired Uniparental Disomy in Myeloproliferative Neoplasms

Hematology/Oncology Clinics of North America

Volumn 26, Issue 5, 2012, Pages 981-991

  Score, Joannah ^a,b   Cross, Nicholas C P ^a,b  

^a UNIVERSITY OF SOUTHAMPTON   (United Kingdom)

^b SALISBURY NHS FOUNDATION TRUST   (United Kingdom)

Author keywords

CBL; EZH2; JAK2; Myeloproliferative neoplasm; SNP array; TET2; Uniparental disomy

Indexed keywords

JANUS KINASE 2; UBIQUITIN PROTEIN LIGASE E3;

ACQUIRED UNIPARENTAL DISOMY; BLOOD; CARDIOVASCULAR DISEASE; CELL LINEAGE; CHROMOSOME 9P; CHROMOSOME MUTATION; COMPARATIVE GENOMIC HYBRIDIZATION; CYTOGENETICS; EPIGENETICS; GENE MUTATION; GENETIC VARIABILITY; HEMATOLOGIC MALIGNANCY; HEMATOPOIETIC STEM CELL; HUMAN; IN VITRO STUDY; KARYOTYPE; LEUKEMIA; LYMPHOBLASTOID CELL LINE; METAPHASE; MICROSATELLITE MARKER; MYELODYSPLASTIC SYNDROME; MYELOFIBROSIS; MYELOID LEUKEMIA; MYELOPROLIFERATIVE NEOPLASM; POLYCYTHEMIA VERA; PRIORITY JOURNAL; REVIEW; SINGLE NUCLEOTIDE POLYMORPHISM; SPLENOMEGALY; THROMBOCYTHEMIA; UNIPARENTAL DISOMY;

GENETIC PREDISPOSITION TO DISEASE; HUMANS; MYELOPROLIFERATIVE DISORDERS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROGNOSIS; UNIPARENTAL DISOMY;

EID: 84866631350     PISSN: 08898588     EISSN: 15581977     Source Type: Journal    
DOI: 10.1016/j.hoc.2012.07.002     Document Type: Review

References (86)

1. Fults D., Pedone C.A., Thomas G.A., et al. Allelotype of human malignant astrocytoma. Cancer Res 1990, 50(18):5784-5789.
2. Reid B.J., Barrett M.T., Galipeau P.C., et al. Barrett's esophagus: ordering the events that lead to cancer. Eur J Cancer Prev 1996, 5(Suppl 2):57-65.
3. Thrash-Bingham C.A., Greenberg R.E., Howard S., et al. Comprehensive allelotyping of human renal cell carcinomas using microsatellite DNA probes. Proc Natl Acad Sci U S A 1995, 92(7):2854-2858.
4. Vogelstein B., Fearon E.R., Kern S.E., et al. Allelotype of colorectal carcinomas. Science 1989, 244(4901):207-211.
5. Yamaguchi T., Toguchida J., Yamamuro T., et al. Allelotype analysis in osteosarcomas: frequent allele loss on 3q, 13q, 17p, and 18q. Cancer Res 1992, 52(9):2419-2423.
6. Gondek L.P., Dunbar A.J., Szpurka H., et al. SNP array karyotyping allows for the detection of uniparental disomy and cryptic chromosomal abnormalities in MDS/MPD-U and MPD. PloS One 2007, 2(11):e1225.
7. Klampfl T., Harutyunyan A., Berg T., et al. Genome integrity of myeloproliferative neoplasms in chronic phase and during disease progression. Blood 2011, 118(1):167-176.
8. Tuna M., Knuutila S., Mills G.B. Uniparental disomy in cancer. Trends Mol Med 2009, 15(3):120-128.
9. Engel E. A new genetic concept: uniparental disomy and its potential effect, isodisomy. Am J Med Genet 1980, 6(2):137-143.
10. Cavenee W.K., Dryja T.P., Phillips R.A., et al. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature 1983, 305(5937):779-784.
11. Flotho C., Steinemann D., Mullighan C.G., et al. Genome-wide single-nucleotide polymorphism analysis in juvenile myelomonocytic leukemia identifies uniparental disomy surrounding the NF1 locus in cases associated with neurofibromatosis but not in cases with mutant RAS or PTPN11. Oncogene 2007, 26(39):5816-5821.
12. Fitzgibbon J., Smith L.L., Raghavan M., et al. Association between acquired uniparental disomy and homozygous gene mutation in acute myeloid leukemias. Cancer Res 2005, 65(20):9152-9154.
13. Kralovics R., Passamonti F., Buser A.S., et al. A gain-of-function mutation of JAK2 in myeloproliferative disorders. N Engl J Med 2005, 352(17):1779-1790.
14. Chao L.Y., Huff V., Tomlinson G., et al. Genetic mosaicism in normal tissues of Wilms' tumour patients. Nat Genet 1993, 3(2):127-131.
15. Lindblad-Toh K., Tanenbaum D.M., Daly M.J., et al. Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol 2000, 18(9):1001-1005.
16. Mei R., Galipeau P.C., Prass C., et al. Genome-wide detection of allelic imbalance using human SNPs and high-density DNA arrays. Genome Res 2000, 10(8):1126-1137.
17. Hoque M.O., Lee C.C., Cairns P., et al. Genome-wide genetic characterization of bladder cancer: a comparison of high-density single-nucleotide polymorphism arrays and PCR-based microsatellite analysis. Cancer Res 2003, 63(9):2216-2222.
18. Zhao X., Li C., Paez J.G., et al. An integrated view of copy number and allelic alterations in the cancer genome using single nucleotide polymorphism arrays. Cancer Res 2004, 64(9):3060-3071.
19. Fearon E.R., Vogelstein B., Feinberg A.P. Somatic deletion and duplication of genes on chromosome 11 in Wilms' tumours. Nature 1984, 309(5964):176-178.
20. Garraway L.A., Widlund H.R., Rubin M.A., et al. Integrative genomic analyses identify MITF as a lineage survival oncogene amplified in malignant melanoma. Nature 2005, 436(7047):117-122.
21. Kralovics R., Guan Y., Prchal J.T. Acquired uniparental disomy of chromosome 9p is a frequent stem cell defect in polycythemia vera. Exp Hematol 2002, 30(3):229-236.
22. Raghavan M., Lillington D.M., 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(2):375-378.
23. Kawamata N., Ogawa S., Zimmermann M., et al. Molecular allelokaryotyping of pediatric acute lymphoblastic leukemias by high-resolution single nucleotide polymorphism oligonucleotide genomic microarray. Blood 2008, 111(2):776-784.
24. Lehmann S., Ogawa S., Raynaud S.D., et al. Molecular allelokaryotyping of early-stage, untreated chronic lymphocytic leukemia. Cancer 2008, 112(6):1296-1305.
25. Grand F.H., Hidalgo-Curtis C.E., Ernst T., et al. Frequent CBL mutations associated with 11q acquired uniparental disomy in myeloproliferative neoplasms. Blood 2009, 113(24):6182-6192.
26. Sanada M., Suzuki T., Shih L.Y., et al. Gain-of-function of mutated C-CBL tumour suppressor in myeloid neoplasms. Nature 2009, 460(7257):904-908.
27. Dunbar A.J., Gondek L.P., O'Keefe C.L., et al. 250K single nucleotide polymorphism array karyotyping identifies acquired uniparental disomy and homozygous mutations, including novel missense substitutions of c-Cbl, in myeloid malignancies. Cancer Res 2008, 68(24):10349-10357.
28. Ernst T., Chase A.J., Score J., et al. Inactivating mutations of the histone methyltransferase gene EZH2 in myeloid disorders. Nat Genet 2010, 42(8):722-726.
29. Langemeijer S.M., Kuiper R.P., Berends M., et al. Acquired mutations in TET2 are common in myelodysplastic syndromes. Nat Genet 2009, 41(7):838-842.
30. Nikoloski G., Langemeijer S.M., Kuiper R.P., et al. Somatic mutations of the histone methyltransferase gene EZH2 in myelodysplastic syndromes. Nat Genet 2010, 42(8):665-667.
31. Delhommeau F., Dupont S., Della Valle V., et al. Mutation in TET2 in myeloid cancers. N Engl J Med 2009, 360(22):2289-2301.
32. Sherry S.T., Ward M.H., Kholodov M., et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res 2001, 29(1):308-311.
33. Chee M., Yang R., Hubbell E., et al. Accessing genetic information with high-density DNA arrays. Science 1996, 274(5287):610-614.
34. Wang D.G., Fan J.B., Siao C.J., et al. Large-scale identification, mapping, and genotyping of single-nucleotide polymorphisms in the human genome. Science 1998, 280(5366):1077-1082.
35. Kennedy G.C., Matsuzaki H., Dong S., et al. Large-scale genotyping of complex DNA. Nat Biotechnol 2003, 21(10):1233-1237.
36. Gondek L.P., Tiu R., O'Keefe C.L., et al. Chromosomal lesions and uniparental disomy detected by SNP arrays in MDS, MDS/MPD, and MDS-derived AML. Blood 2008, 111(3):1534-1542.
37. Jones A.V., Cross N.C. Oncogenic derivatives of platelet-derived growth factor receptors. Cell Mol Life Sci 2004, 61(23):2912-2923.
38. David M., Cross N.C., Burgstaller S., et al. Durable responses to imatinib in patients with PDGFRB fusion gene-positive and BCR-ABL-negative chronic myeloproliferative disorders. Blood 2007, 109(1):61-64.
39. Ardlie K.G., Kruglyak L., Seielstad M. Patterns of linkage disequilibrium in the human genome. Nat Rev Genet 2002, 3(4):299-309.
40. Yamamoto G., Nannya Y., Kato M., et al. Highly sensitive method for genomewide detection of allelic composition in nonpaired, primary tumor specimens by use of affymetrix single-nucleotide-polymorphism genotyping microarrays. Am J Hum Genet 2007, 81(1):114-126.
41. Lieberfarb M.E., Lin M., Lechpammer M., et al. Genome-wide loss of heterozygosity analysis from laser capture microdissected prostate cancer using single nucleotide polymorphic allele (SNP) arrays and a novel bioinformatics platform dChipSNP. Cancer Res 2003, 63(16):4781-4785.
42. Simon-Sanchez J., Scholz S., Fung H.C., et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2007, 16(1):1-14.
43. Stegelmann F., Bullinger L., Griesshammer M., et al. High-resolution single-nucleotide polymorphism array-profiling in myeloproliferative neoplasms identifies novel genomic aberrations. Haematologica 2010, 95(4):666-669.
44. Griffiths M., Mason J., Rindl M., et al. Acquired isodisomy for chromosome 13 is common in AML, and associated with FLT3-itd mutations. Leukemia 2005, 19(12):2355-2358.
45. Wouters B.J., Sanders M.A., Lugthart S., et al. Segmental uniparental disomy as a recurrent mechanism for homozygous CEBPA mutations in acute myeloid leukemia. Leukemia 2007, 21(11):2382-2384.
46. Score J., Hidalgo-Curtis C., Jones A.V., et al. Inactivation of polycomb repressive complex 2 components in myeloproliferative and myelodysplastic/myeloproliferative neoplasms. Blood 2012, 119(5):1208-1213.
47. Raghavan M., Smith L.L., Lillington D.M., et al. Segmental uniparental disomy is a commonly acquired genetic event in relapsed acute myeloid leukemia. Blood 2008, 112(3):814-821.
48. James C., Ugo V., Le Couedic J.P., et al. A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera. Nature 2005, 434(7037):1144-1148.
49. Levine R.L., Loriaux M., Huntly B.J., et al. The JAK2V617F activating mutation occurs in chronic myelomonocytic leukemia and acute myeloid leukemia, but not in acute lymphoblastic leukemia or chronic lymphocytic leukemia. Blood 2005, 106(10):3377-3379.
50. Baxter E.J., Scott L.M., Campbell P.J., et al. Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders. Lancet 2005, 365(9464):1054-1061.
51. Scott L.M., Scott M.A., Campbell P.J., et al. Progenitors homozygous for the V617F mutation occur in most patients with polycythemia vera, but not essential thrombocythemia. Blood 2006, 108(7):2435-2437.
52. Kawamata N., Ogawa S., Yamamoto G., et al. Genetic profiling of myeloproliferative disorders by single-nucleotide polymorphism oligonucleotide microarray. Exp Hematol 2008, 36(11):1471-1479.
53. Heinrichs S., Kulkarni R.V., Bueso-Ramos C.E., et al. Accurate detection of uniparental disomy and microdeletions by SNP array analysis in myelodysplastic syndromes with normal cytogenetics. Leukemia 2009, 23(9):1605-1613.
54. Mohamedali A., Gaken J., Twine N.A., et al. Prevalence and prognostic significance of allelic imbalance by single-nucleotide polymorphism analysis in low-risk myelodysplastic syndromes. Blood 2007, 110(9):3365-3373.
55. Thien C.B., Langdon W.Y. Negative regulation of PTK signalling by Cbl proteins. Growth Factors 2005, 23(2):161-167.
56. Swaminathan G., Tsygankov A.Y. The Cbl family proteins: ring leaders in regulation of cell signaling. J Cell Physiol 2006, 209(1):21-43.
57. Schmidt M.H., Dikic I. The Cbl interactome and its functions. Nat Rev Mol Cell Biol 2005, 6(12):907-918.
58. Sargin B., Choudhary C., Crosetto N., et al. Flt3-dependent transformation by inactivating c-Cbl mutations in AML. Blood 2007, 110(3):1004-1012.
59. Caligiuri M.A., Briesewitz R., Yu J., et al. Novel c-CBL and CBL-b ubiquitin ligase mutations in human acute myeloid leukemia. Blood 2007, 110(3):1022-1024.
60. Abbas S., Rotmans G., Lowenberg B., et al. Exon 8 splice site mutations in the gene encoding the E3-ligase CBL are associated with core binding factor acute myeloid leukemias. Haematologica 2008, 93(10):1595-1597.
61. Ko M., Huang Y., Jankowska A.M., et al. Impaired hydroxylation of 5-methylcytosine in myeloid cancers with mutant TET2. Nature 2010, 468(7325):839-843.
62. Tahiliani M., Koh K.P., Shen Y., et al. Conversion of 5-methylcytosine to 5-hydroxymethylcytosine in mammalian DNA by MLL partner TET1. Science 2009, 324(5929):930-935.
63. Ito S., D'Alessio A.C., Taranova O.V., et al. Role of Tet proteins in 5mC to 5hmC conversion, ES-cell self-renewal and inner cell mass specification. Nature 2010, 466(7310):1129-1133.
64. Bracken A.P., Helin K. Polycomb group proteins: navigators of lineage pathways led astray in cancer. Nat Rev Cancer 2009, 9(11):773-784.
65. Simon J.A., Lange C.A. Roles of the EZH2 histone methyltransferase in cancer epigenetics. Mutat Res 2008, 647(1-2):21-29.
66. Cao R., Wang L., Wang H., et al. Role of histone H3 lysine 27 methylation in Polycomb-group silencing. Science 2002, 298(5595):1039-1043.
67. Czermin B., Melfi R., McCabe D., et al. Drosophila enhancer of Zeste/ESC complexes have a histone H3 methyltransferase activity that marks chromosomal Polycomb sites. Cell 2002, 111(2):185-196.
68. Muller J., Hart C.M., Francis N.J., et al. Histone methyltransferase activity of a Drosophila Polycomb group repressor complex. Cell 2002, 111(2):197-208.
69. Kuzmichev A., Nishioka K., Erdjument-Bromage H., et al. Histone methyltransferase activity associated with a human multiprotein complex containing the Enhancer of Zeste protein. Genes Dev 2002, 16(22):2893-2905.
70. Guglielmelli P., Biamonte F., Score J., et al. EZH2 mutational status predicts poor survival in myelofibrosis. Blood 2011, 118(19):5227-5234.
71. Brecqueville M., Rey J., Bertucci F., et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12, and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer 2012, 51(8):743-755.
72. Zhang J., Ding L., Holmfeldt L., et al. The genetic basis of early T-cell precursor acute lymphoblastic leukaemia. Nature 2012, 481(7380):157-163.
73. van Haaften G., Dalgliesh G.L., Davies H., et al. Somatic mutations of the histone H3K27 demethylase gene UTX in human cancer. Nat Genet 2009, 41(5):521-523.
74. Ley T.J., Ding L., Walter M.J., et al. DNMT3A mutations in acute myeloid leukemia. N Engl J Med 2010, 363(25):2424-2433.
75. Walter M.J., Ding L., Shen D., et al. Recurrent DNMT3A mutations in patients with myelodysplastic syndromes. Leukemia 2011, 25(7):1153-1158.
76. Luedi P.P., Hartemink A.J., Jirtle R.L. Genome-wide prediction of imprinted murine genes. Genome Res 2005, 15(6):875-884.
77. Lo H.S., Wang Z., Hu Y., et al. Allelic variation in gene expression is common in the human genome. Genome Res 2003, 13(8):1855-1862.
78. Gimelbrant A., Hutchinson J.N., Thompson B.R., et al. Widespread monoallelic expression on human autosomes. Science 2007, 318(5853):1136-1140.
79. Kralovics R., Teo S.S., Buser A.S., et al. Altered gene expression in myeloproliferative disorders correlates with activation of signaling by the V617F mutation of Jak2. Blood 2005, 106(10):3374-3376.
80. de Nooij-van Dalen A.G., van Buuren-van Seggelen V.H., Mulder A., et al. Isolation and molecular characterization of spontaneous mutants of lymphoblastoid cells with extended loss of heterozygosity. Mutat Res 1997, 374(1):51-62.
81. Gupta P.K., Sahota A., Boyadjiev S.A., et al. High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination. Cancer Res 1997, 57(6):1188-1193.
82. Hickson I.D. RecQ helicases: caretakers of the genome. Nat Rev Cancer 2003, 3(3):169-178.
83. Lohman T.M., Bjornson K.P. Mechanisms of helicase-catalyzed DNA unwinding. Annu Rev Biochem 1996, 65:169-214.
84. Villani G., Tanguy Le Gac N. Interactions of DNA helicases with damaged DNA: possible biological consequences. J Biol Chem 2000, 275(43):33185-33188.
85. Kralovics R. Genetic complexity of myeloproliferative neoplasms. Leukemia 2008, 22(10):1841-1848.
86. Kruglyak L. The use of a genetic map of biallelic markers in linkage studies. Nat Genet 1997, 17(1):21-24.