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Hematological Malignancy

Prognostic significance of ASXL1 mutations in myelodysplastic syndromes and chronic myelomonocytic leukemia: A meta-analysis

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References

  • Nimer SD. Myelodysplastic syndromes. Blood. 2008;111:4841–51. doi: 10.1182/blood-2007-08-078139
  • Nolte F, Hofmann WK. Myelodysplastic syndromes: molecular pathogenesis and genomic changes. Ann Hematol. 2008;87:777–95. doi: 10.1007/s00277-008-0502-z
  • Tefferi A, Vardiman JW. Myelodysplastic syndromes. N Engl J Med. 2009;361:1872–85. doi: 10.1056/NEJMra0902908
  • Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292–302. doi: 10.1182/blood-2002-04-1199
  • Fisher CL, Berger J, Randazzo F, Brock HWA. Human homolog of additional sex combs, additional sex combs-like 1, maps to chromosome 20q11. Gene. 2003;306:115–26. doi: 10.1016/S0378-1119(03)00430-X
  • Scheuermann JC, de Ayala Alonso AG, Oktaba K, Ly-Hartig N, McGinty RK, Fraterman S, et al. Histone H2A deubiquitinase activity of the polycomb repressive complex PR-DUB. Nature. 2010;465:243–7. doi: 10.1038/nature08966
  • Cho YS, Kim EJ, Park UH, Sin HS, Um SJ. Additional sex comb-like 1 (ASXL1), in cooperation with SRC-1, acts as a ligand-dependent coactivator for retinoic acid receptor. J Biol Chem. 2006;281:17588–98. doi: 10.1074/jbc.M512616200
  • Fisher CL, Randazzo F, Humphries RK, Brock HW. Characterization of Asxl1, a murine homolog of additional sex combs, and analysis of the Asx-like gene family. Gene. 2006;369:109–18. doi: 10.1016/j.gene.2005.10.033
  • Lee SW, Cho YS, Na JM, Park UH, Kang M, Kim EJ, et al. ASXL1 represses retinoic acid receptor-mediated transcription through associating with HP1 and LSD1. J Biol Chem. 2010;285:18–29. doi: 10.1074/jbc.M109.065862
  • Fisher CL, Pineault N, Brookes C, Helgason CD, Ohta H, Bodner C, et al. Loss-of-function additional sex combs like 1 mutations disrupt hematopoiesis but do not cause severe myelodysplasia or leukemia. Blood. 2010;115:38–46. doi: 10.1182/blood-2009-07-230698
  • Gelsi-Boyer V, Trouplin V, Adelaide J, Bonansea J, Cervera N, Carbuccia N, et al. Mutations of polycomb-associated gene ASXL1 in myelodysplastic syndromes and chronic myelomonocytic leukaemia. Br J Haematol. 2009;145:788–800. doi: 10.1111/j.1365-2141.2009.07697.x
  • Boultwood J, Perry J, Pellagatti A, Fernandez-Mercado M, Fernandez-Santamaria C, Calasanz MJ, et al. Frequent mutation of the polycomb-associated gene ASXL1 in the myelodysplastic syndromes and in acute myeloid leukemia. Leukemia. 2010;24:1062–5. doi: 10.1038/leu.2010.20
  • Abdel-Wahab O, Pardanani A, Patel J, Wadleigh M, Lasho T, Heguy A, et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia. 2011;25:1200–2. doi: 10.1038/leu.2011.58
  • Pratcorona M, Abbas S, Sanders M, Koenders J, Karelaars F, Erpelinck-Verschueren C, et al. Acquired mutations in ASXL1 in acute myeloid leukemia: prevalence and prognostic value. Haematologica. 2012;97:388–92. doi: 10.3324/haematol.2011.051532
  • Rocquain J, Carbuccia N, Trouplin V, Raynaud S, Murati A, Nezri M, et al. Combined mutations of ASXL1, CBL, FLT3, IDH1, IDH2, JAK2, KRAS, NPM1, NRAS, RUNX1, TET2 and WT1 genes in myelodysplastic syndromes and acute myeloid leukemias. BMC Cancer. 2010;10:401–7. doi: 10.1186/1471-2407-10-401
  • Brecqueville M, Rey J, Bertucci F, Coppin E, Finetti P, Carbuccia N, et al. Mutation analysis of ASXL1, CBL, DNMT3A, IDH1, IDH2, JAK2, MPL, NF1, SF3B1, SUZ12 and TET2 in myeloproliferative neoplasms. Genes Chromosomes Cancer. 2012;51:743–55. doi: 10.1002/gcc.21960
  • Boultwood J, Perry J, Zaman R, Fernandez-Santamaria C, Littlewood T, Kusec R, et al. High-density single nucleotide polymorphism array analysis and ASXL1 gene mutation screening in chronic myeloid leukemia during disease progression. Leukemia. 2010;24:1139–45. doi: 10.1038/leu.2010.65
  • Carbuccia N, Murati A, Trouplin V, Brecqueville M, Adélaïde J, Rey J, et al. Mutations of ASXL1 gene in myeloproliferative neoplasms. Leukemia. 2009;23:2183–6. doi: 10.1038/leu.2009.141
  • Chou WC, Huang HH, Hou HA, Chen CY, Tang JL, Yao M, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comblike 1 (ASXL1) mutations. Blood. 2011;116:4086–94. doi: 10.1182/blood-2010-05-283291
  • Stein BL, Williams DM, O'Keefe C, Rogers O, Ingersoll RG, Spivak JL, et al. Disruption of the ASXL1 gene is frequent in primary, post-essential thrombocytosis and postpolycythemia vera myelofibrosis, but not essential thrombocytosis or polycythemia vera: analysis of molecular genetics and clinical phenotypes. Haematologica. 2011;96:1462–9. doi: 10.3324/haematol.2011.045591
  • Shen Y, Zhu YM, Fan X, Shi JY, Wang QR, Yan XJ, et al. Gene mutation patterns and their prognostic impact in a cohort of 1185 patients with acute myeloid leukemia. Blood. 2011;118:5593–603. doi: 10.1182/blood-2011-03-343988
  • Jankowska AM, Makishima H, Tiu RV, Szpurka H, Huang Y, Traina F, et al. Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood. 2011;118:3932–41. doi: 10.1182/blood-2010-10-311019
  • Abdel-Wahab O, Manshouri T, Patel J, Harris K, Yao J, Hedvat C, et al. Genetic analysis of transforming events that convert chronic myeloproliferative neoplasms to leukemias. Cancer Res. 2010;70:447–52. doi: 10.1158/0008-5472.CAN-09-3783
  • Carbuccia N, Trouplin V, Gelsi-Boyer V, Murati A, Rocquain J, Adélaïde J, et al. Mutual exclusion of ASXL1 and NPM1 mutations in a series of acute myeloid leukemias. Leukemia. 2010;24:469–73. doi: 10.1038/leu.2009.218
  • Grossmann V, Kohlmann A, Eder C, Haferlach C, Kern W, Cross NC, et al. Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia. 2012;25:877–9. doi: 10.1038/leu.2011.10
  • Egger M, Davey Smith G, Schneider M, Minder C. Bias in meta-analysis detected by a simple graphical test. BMJ. 1997;315:629–34. doi: 10.1136/bmj.315.7109.629
  • Chen T-C, Houl H-A, Chou W-C, Tang J-L, Kuo Y-Y, Chen C-Y, et al. Dynamics of ASXL1 mutation and other associated genetic alterations during disease progression in patients with primary myelodysplastic syndrome. Blood Cancer J. 2014;4:e177. doi: 10.1038/bcj.2013.74
  • Bejar R, Stevenson K, Abdel-Wahab O, Bejar R, Stevenson K, Abdel-Wahab O, et al. Clinical effect of point mutations in myelodysplastic syndromes. N Engl J Med. 2011;364:2496–506. doi: 10.1056/NEJMoa1013343
  • Thol F, Friesen I, Damm F, Yun H, Eva M, Weissinger E, et al. Prognostic significance of ASXL1 mutations in patients with myelodysplastic syndromes. J Clin Oncol. 2011;29:2499–506. doi: 10.1200/JCO.2010.33.4938
  • Gelsi-Boyer V, Trouplin V, Roquain J, Adélaïde J, Carbuccia N, Esterni B, et al. ASXL1 mutation is associated with poor prognosis and acute transformation in chronic myelomonocytic leukaemia. Br J Haematol. 2010;151:365–75. doi: 10.1111/j.1365-2141.2010.08381.x
  • Itzykson R, Kosmider O, Renneville A, Gelsi-Boyer V, Meggendorfer M, Morabito M, et al. Prognostic score including gene mutations in chronic myelomonocytic leukemia. J Clin Oncol. 2013;31:2428–36. doi: 10.1200/JCO.2012.47.3314
  • Bacher U, Haferlach T, Schnittger S, Zenger M, Meggendorfer M, Jeromin S, et al. Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact. Br J Haematol. 2014;164:822–33. doi: 10.1111/bjh.12710
  • Thol F, Winschel C, Lüdeking A, Yun H, Friesen I, Damm F, et al. Rare occurrence of DNMT3A mutations in myelodysplastic syndromes. Haematologica. 2011;96:1870–3. doi: 10.3324/haematol.2011.045559
  • Wang J, Ai X, Gale RP, Xu Z, Qin T, Fang L, et al. TET2, ASXL1 and EZH2 mutations in Chinese with myelodysplastic syndromes. Leuk Res. 2013;37:305–11. doi: 10.1016/j.leukres.2012.10.004
  • Patnaik MM, Padron E, LaBorde RR, Lasho TL, Finke CM, Hanson CA, et al. Mayo prognostic model for WHO-defined chronic myelomonocytic leukemia: ASXL1 and spliceosome component mutations and outcomes. Leukemia. 2013;27:1504–10. doi: 10.1038/leu.2013.88
  • Parmar MK, Torri V, Stewart L. Extracting summary statistics to perform meta-analyses of the published literature for survival endpoints. Stat Med. 1998;17:2815–34. doi: 10.1002/(SICI)1097-0258(19981230)17:24<2815::AID-SIM110>3.0.CO;2-8
  • Hotta K, Matsuo K, Ueoka H, Kiura K, Tabata M, Tanimoto M. Meta-analysis of randomized clinical trials comparing cisplatin to carboplatin in patients with advanced non-small-cell lung cancer. J Clin Oncol. 2004;22:3852–9. doi: 10.1200/JCO.2004.02.109
  • Ottawa Hospital Research Institute. The Newcastle–Ottawa Scale (NOS) for assessing the quality of nonrandomised studies in meta-analyses. 2009. Available from: http://www.ohri.ca/programs/clinical_epidemiology/oxford.asp
  • Higgins JP, Thompson SG, Deeks JJ, Altman DG. Measuring inconsistency in meta-analyses. BMJ. 2003;327:557–60. doi: 10.1136/bmj.327.7414.557
  • Begg CB, Mazumdar M. Operating characteristics of a rank correlation test for publication bias. Biometrics. 1994;50:1088–101. doi: 10.2307/2533446
  • Abdel-Wahab O, Pardanani A, Patel J, Wadleigh M, Lasho T, Heguy A, et al. Concomitant analysis of EZH2 and ASXL1 mutations in myelofibrosis, chronic myelomonocytic leukemia and blast-phase myeloproliferative neoplasms. Leukemia. 2011;25:1200–2. doi: 10.1038/leu.2011.58
  • Metzeler KH, Becker H, Maharry K, Radmacher MD, Kohlschmidt J, Mrózek K, et al. ASXL1 mutations identify a high-risk subgroup of older patients with primary cytogenetically normal AML within the ELN favorable genetic category. Blood. 2011;118:6920–9. doi: 10.1182/blood-2011-08-368225
  • Shivarov V, Gueorguieva R, Ivanova M, Tiu RV. ASXL1 mutations define a subgroup of AML patients with distinct gene expression profile and poor prognosis: a meta-analysis of 3311 adult AML patients. Leuk Lymphoma. 2015;56:1881–3. doi: 10.3109/10428194.2014.974596
  • Chou WC, Huang HH, Hou HA, Chen CY, Tang JL, Yao M, et al. Distinct clinical and biological features of de novo acute myeloid leukemia with additional sex comb-like 1 (ASXL1) mutations. Blood. 2010;116:4086–94. doi: 10.1182/blood-2010-05-283291
  • El-Sharkawi D, Ali A, Evans CM, Hills RK, Burnett AK, Linch DC, et al. ASXL1 mutations are infrequent in young patients with primary acute myeloid leukemia and their detection has a limited role in therapeutic risk stratification. Leuk Lymphoma. 2014;55:1326–31. doi: 10.3109/10428194.2013.833332
  • Schnittger S, Eder C, Jeromin S, Alpermann T, Fasan A, Grossmann V, et al. ASXL1 exon 12 mutations are frequent in AML with intermediate risk karyotype and are independently associated with an adverse outcome. Leukemia. 2013;27:82–91. doi: 10.1038/leu.2012.262

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