Whole-exome sequencing reveals potential molecular predictors of relapse after discontinuation of the targeted therapy in chronic myeloid leukemia patients

References

• Vardiman JW, Harris NL, Brunning RD. The World Health Organization (WHO) classification of the myeloid neoplasms. Blood. 2002;100:2292–2302.
   PubMed Web of Science ®Google Scholar
• Goldman JM, Melo JV. Chronic myeloid leukemia-advances in biology and new approaches to treatment. N Engl J Med. 2003;349:1451–1464.
   PubMed Web of Science ®Google Scholar
• Druker BJ, Tamura S, Buchdunger E, et al. Effects of a selective inhibitor of the Abl tyrosine kinase on the growth of Bcr-Abl positive cells. Nat Med. 1996;2:561–566.
   PubMed Web of Science ®Google Scholar
• Saglio G, Kim DW, Issaragrisil S, et al. Nilotinib versus imatinib for newly diagnosed chronic myeloid leukemia. N Engl J Med. 2010;362:2251–2259.
   PubMed Web of Science ®Google Scholar
• Kantarjian H, Shah NP, Hochhaus A, et al. Dasatinib versus imatinib in newly diagnosed chronic-phase chronic myeloid leukemia. N Engl J Med. 2010;362:2260–2270.
   PubMed Web of Science ®Google Scholar
• Kantarjian HM, Hochhaus A, Saglio G, et al. Nilotinib versus imatinib for the treatment of patients with newly diagnosed chronic phase, Philadelphia chromosome-positive, chronic myeloid leukaemia: 24-month minimum follow-up of the phase 3 randomised ENESTnd trial. Lancet Oncol. 2011;12:841–851.
   PubMed Web of Science ®Google Scholar
• Kalmanti L, Saussele S, Lauseker M, et al. Safety and efficacy of imatinib in CML over a period of 10 years: data from the randomized CML-study IV. Leukemia. 2015;29:1123–1132.
   PubMed Web of Science ®Google Scholar
• Efficace F, Baccarani M, Breccia M, et al. Chronic fatigue is the most important factor limiting health-related quality of life of chronic myeloid leukemia patients treated with imatinib. Leukemia. 2013;27:1511–1519.
   PubMed Web of Science ®Google Scholar
• Phillips KM, Pinilla-Ibarz J, Sotomayor E, et al. Quality of life outcomes in patients with chronic myeloid leukemia treated with tyrosine kinase inhibitors: a controlled comparison. Support Care Cancer. 2013;21:1097–1103.
   PubMed Web of Science ®Google Scholar
• Experts in Chronic Myeloid Leukemia. The price of drugs for chronic myeloid leukemia (CML) is a reflection of the unsustainable prices of cancer drugs: from the perspective of a large group of CML experts. Blood. 2013;121:4439–4442.
   PubMed Web of Science ®Google Scholar
• Cortes J, O'Brien S, Kantarjian H. Discontinuation of imatinib therapy after achieving a molecular response. Blood. 2004;104:2204–2205.
   PubMed Web of Science ®Google Scholar
• Mauro MJ, Druker BJ, Maziarz RT. Divergent clinical outcome in two CML patients who discontinued imatinib therapy after achieving a molecular remission. Leuk Res. 2004;28:S71–S73.
   PubMed Web of Science ®Google Scholar
• Mahon FX, Réa D, Guilhot J, et al. Discontinuation of imatinib in patients with chronic myeloid leukaemia who have maintained complete molecular remission for at least 2 years: the prospective, multicentre Stop Imatinib (STIM) trial. Lancet Oncol. 2010;11:1029–1035.
   PubMed Web of Science ®Google Scholar
• Yhim HY, Lee NR, Song EK, et al. Imatinib mesylate discontinuation in patients with chronic myeloid leukemia who have received front-line imatinib mesylate therapy and achieved complete molecular response. Leuk Res. 2012;36:689–693.
   PubMed Web of Science ®Google Scholar
• Takahashi N, Kyo T, Maeda Y, et al. Discontinuation of imatinib in Japanese patients with chronic myeloid leukemia. Haematologica. 2012;97:903–906.
   PubMed Web of Science ®Google Scholar
• Ross DM, Branford S, Seymour JF, et al. Safety and efficacy of imatinib cessation for CML patients with stable undetectable minimal residual disease: results from the TWISTER study. Blood. 2013;122:515–522.
   PubMed Web of Science ®Google Scholar
• Rousselot P, Charbonnier A, Cony-Makhoul P, et al. Loss of major molecular response as a trigger for restarting tyrosine kinase inhibitor therapy in patients with chronic-phase chronic myelogenous leukemia who have stopped imatinib after durable undetectable disease. J Clin Oncol. 2014;32:424–430.
   PubMed Web of Science ®Google Scholar
• Horn M, Glauche I, Müller MC, et al. Model-based decision rules reduce the risk of molecular relapse after cessation of tyrosine kinase inhibitor therapy in chronic myeloid leukemia. Blood. 2013;121:378–384.
   PubMed Web of Science ®Google Scholar
• Stagno F, Vigneri P, Di Raimondo F. Imatinib discontinuation: realistic for patients with chronic myeloid leukaemia achieving complete molecular remission? Lancet Oncol. 2011;12:118.
   PubMed Web of Science ®Google Scholar
• Smirnikhina SA, Lavrov AV, Adilgereeva EP, et al. Clinical significance of the whole-exome studies in myeloid neoplasms using next-generation sequencing. Klinicheskaya Onkogematologiya. Fundamental’nye Issledovaniya I Klinicheskaya Praktika. 2013;6:11–19.
   Google Scholar
• Wang K, Li M, Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res. 2010;38:e164.
   PubMed Web of Science ®Google Scholar
• Mc Laren W, Pritchard B, Rios D, et al. Deriving the consequences of genomic variants with the Ensembl API and SNP effect predictor. Bioinformatics. 2010;26:2069–2070.
   PubMed Web of Science ®Google Scholar
• Ng PC, Henikoff S. Predicting deleterious amino acid substitutions. Genome Res. 2001;11:863–874.
   PubMed Web of Science ®Google Scholar
• Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7:248–249.
   PubMed Web of Science ®Google Scholar
• Nowicki MO, Pawlowski P, Fischer T, et al. Chronic myelogenous leukemia molecular signature. Oncogene. 2003;22:3952–3963.
   PubMed Web of Science ®Google Scholar
• Mahon FX. Discontinuation of tyrosine kinase therapy in CML. Ann Hematol. 2015;94:S187–S193.
   PubMed Web of Science ®Google Scholar
• Li C, Long B, Qin X, et al. Cytochrome P1B1 (CYP1B1) polymorphisms and cancer risk: a meta-analysis of 52 studies. Toxicology. 2015;327:77–86.
   PubMed Web of Science ®Google Scholar
• Shimada T, Hayes CL, Yamazaki H, et al. Activation of chemically diverse procarcinogens by human cytochrome P-450 1B1. Cancer Res. 1996;56:2979–2984.
   PubMed Web of Science ®Google Scholar
• Roos PH, Bolt HM. Cytochrome P450 interactions in human cancers: new aspects considering CYP1B1. Expert Opin Drug Metab Toxicol. 2005;1:187–202.
   PubMedGoogle Scholar
• Saintot M, Malaveille C, Hautefeuille A, et al. Interactions between genetic polymorphism of cytochrome P450-1B1, sulfotransferase 1A1, catechol-o-methyltransferase and tobacco exposure in breast cancer risk. Int J Cancer. 2003;107:652–657.
   PubMed Web of Science ®Google Scholar
• Bailey LR, Roodi N, Dupont WD, et al. Association of cytochrome P450 1B1 (CYP1B1) polymorphism with steroid receptor status in breast cancer. Cancer Res. 1998;58:5038–5041.
   PubMed Web of Science ®Google Scholar
• Jiao H, Liu C, Guo W, et al. Association of CYP1B1 polymorphisms with breast cancer: a case-control study in the Han Population in Ningxia Hui Autonomous Region, P. R. China. Biomark Insights. 2010;5:21–27.
   PubMedGoogle Scholar
• Zimarina TC, Kristensen VN, Imianitov EN, et al. Polymorphisms of CYP1B1 and COMT in breast and endometrial cancer. Mol Biol (Mosk). 2004;38:386–393.
   PubMed Web of Science ®Google Scholar
• Sasaki M, Tanaka Y, Kaneuchi M, et al. CYP1B1 gene polymorphisms have higher risk for endometrial cancer, and positive correlations with estrogen receptor alpha and estrogen receptor beta expressions. Cancer Res. 2003;63:3913–3918.
   PubMed Web of Science ®Google Scholar
• Liu F, Luo LM, Wei YG, et al. Polymorphisms of the CYP1B1 gene and hepatocellular carcinoma risk in a Chinese population. Gene. 2015;564:14–20.
   PubMed Web of Science ®Google Scholar
• Murray GI, Taylor MC, Mc Fadyen MC, et al. Tumor-specific expression of cytochrome P450 CYP1B1. Cancer Res. 1997;57:3026–3031.
   PubMed Web of Science ®Google Scholar
• Bandiera S, Weidlich S, Harth V, et al. Proteasomal degradation of human CYP1B1: effect of the Asn453Ser polymorphism on the post-translational regulation of CYP1B1 expression. Mol Pharmacol. 2005;67:435–443.
   PubMed Web of Science ®Google Scholar
• Justenhoven C, Pierl CB, Haas S, et al. The CYP1B1_1358_GG genotype is associated with estrogen receptor-negative breast cancer. Breast Cancer Res Treat. 2008;111:171–177.
   PubMed Web of Science ®Google Scholar
• Lévesque E, Laverdière I, Audet-Walsh E, et al. Steroidogenic germline polymorphism predictors of prostate cancer progression in the estradiol pathway. Clin Cancer Res. 2014;20:2971–2983.
   PubMed Web of Science ®Google Scholar
• Hlavata I, Vrana D, Smerhovsky Z, et al. Association between exposure-relevant polymorphisms in CYP1B1, EPHX1, NQO1, GSTM1, GSTP1 and GSTT1 and risk of colorectal cancer in a Czech population. Oncol Rep. 2010;24:1347–1353.
   PubMed Web of Science ®Google Scholar
• Teng Y, He C, Zuo X, et al. Catechol-O-methyltransferase and cytochrome P-450 1B1 polymorphisms and endometrial cancer risk: a meta-analysis. Int J Gynecol Cancer. 2013;23:422–430.
   PubMed Web of Science ®Google Scholar
• Vogelstein B, Fearon ER, Hamilton SR, et al. Genetic alterations during colorectal-tumor development. N Engl J Med. 1988;319:525–532.
   PubMed Web of Science ®Google Scholar
• Salim H, Arvanitis A, de Petris L, et al. miRNA-214 is related to invasiveness of human non-small cell lung cancer and directly regulates alpha protein kinase 2 expression. Genes Chromosomes Cancer. 2013;52:895–911.
   PubMed Web of Science ®Google Scholar
• Junnila S, Kokkola A, Karjalainen-Lindsberg ML, et al. Genome-wide gene copy number and expression analysis of primary gastric tumors and gastric cancer cell lines. BMC Cancer. 2010;10:73.
   PubMed Web of Science ®Google Scholar
• Yoshida Y, Tsunoda T, Doi K, et al. ALPK2 is crucial for luminal apoptosis and DNA repair-related gene expression in a three-dimensional colonic-crypt model. Anticancer Res. 2012;32:2301–2308.
   PubMed Web of Science ®Google Scholar
• Kondo T, Minamino N, Nagamura-Inoue T, et al. Identification and characterization of nucleophosmin/B23/numatrin which binds the anti-oncogenic transcription factor IRF-1 and manifests oncogenic activity. Oncogene. 1997;15:1275–1281.
   PubMed Web of Science ®Google Scholar
• Camicia R, Bachmann SB, Winkler HC, et al. BAL1/ARTD9 represses the anti-proliferative and pro-apoptotic IFNγ-STAT1-IRF1-p53 axis in diffuse large B-cell lymphoma. J Cell Sci. 2013;126:1969–1980.
   PubMed Web of Science ®Google Scholar
• Green WB, Slovak ML, Chen IM, et al. Lack of IRF-1 expression in acute promyelocytic leukemia and in a subset of acute myeloid leukemias with del(5)(q31). Leukemia. 1999;13:1960–1971.
   PubMed Web of Science ®Google Scholar
• Doherty GM, Boucher L, Sorenson K, et al. Interferon regulatory factor expression in human breast cancer. Ann Surg. 2001;233:623–629.
   PubMed Web of Science ®Google Scholar
• Tzoanopoulos D, Speletas M, Arvanitidis K, et al. Low expression of interferon regulatory factor-1 and identification of novel exons skipping in patients with chronic myeloid leukaemia. Br J Haematol. 2002;119:46–53.
   PubMed Web of Science ®Google Scholar
• Aguiar RC, Yakushijin Y, Kharbanda S, et al. BAL is a novel risk-related gene in diffuse large B-cell lymphomas that enhances cellular migration. Blood. 2000;96:4328–4334.
   PubMed Web of Science ®Google Scholar
• Bachmann SB, Frommel SC, Camicia R, et al. DTX3L and ARTD9 inhibit IRF1 expression and mediate in cooperation with ARTD8 survival and proliferation of metastatic prostate cancer cells. Mol Cancer. 2014;13:125.
   PubMed Web of Science ®Google Scholar
• Angelini S, Soverini S, Ravegnini G, et al. Association between imatinib transporters and metabolizing enzymes genotype and response in newly diagnosed chronic myeloid leukemia patients receiving imatinib therapy. Haematologica. 2013;98:193–200.
   PubMed Web of Science ®Google Scholar