E2F1 rs3213150 polymorphism influences cytarabine sensitivity and prognosis in patients with acute myeloid leukemia.
Acute myeloid leukemia (AML)
Chemosensitivity
Cytarabine (Ara-C)
E2F1
Polymorphism
Prognosis
Journal
Annals of hematology
ISSN: 1432-0584
Titre abrégé: Ann Hematol
Pays: Germany
ID NLM: 9107334
Informations de publication
Date de publication:
Dec 2023
Dec 2023
Historique:
received:
06
06
2023
accepted:
26
08
2023
medline:
13
11
2023
pubmed:
4
9
2023
entrez:
4
9
2023
Statut:
ppublish
Résumé
Cytarabine (Ara-C) plays an irreplaceable role in the treatment of acute myeloid leukemia (AML). However, there are significant differences in efficacy among patients. Our previous studies found that E2F1 rs3213150 polymorphism was associated with remission rate of Ara-C chemotherapy, but the specific mechanism is not clear. This study aimed to further confirm the correlation between E2F1 rs3213150 polymorphism and Ara-C resistance and prognosis in AML patients, and to provide valuable information for elucidating the molecular mechanisms involved. Rs3213150 genotyping was performed in 922 AML patients by Sanger sequencing, and the effects of different genotypes on chemosensitivity and prognosis were analyzed by Logistic regression and Cox regression. Meanwhile, a prediction model of Ara-C chemotherapy resistance was established. The impact of rs3213150 polymorphism on E2F1 expression level was determined by luciferase reporter gene assay, and differentially expressed genes between patients with different genotypes were identified by RNA sequencing. Compared with rs3213150 G allele carriers, patients with AA genotype had more obvious Ara-C resistance (41.94% vs. 27.94%, P = 0.002), shorter overall survival (529 d vs. 644 d, P = 0.008) and disease-free survival (519 d vs. 556 d, P = 0.023). Rs3213150G > A mutation resulted in decreased E2F1 expression. E2F1 rs3213150 polymorphism influences the chemosensitivity and prognosis of Ara-C in Chinese AML patients.
Identifiants
pubmed: 37665348
doi: 10.1007/s00277-023-05431-y
pii: 10.1007/s00277-023-05431-y
doi:
Substances chimiques
Cytarabine
04079A1RDZ
E2F1 protein, human
0
E2F1 Transcription Factor
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
3345-3355Subventions
Organisme : Natural Science Foundation of Hunan Province
ID : 2021JJ41011
Informations de copyright
© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.
Références
Pelcovits A, Niroula R (2020) Acute myeloid leukemia: a review. R I Med J 103:38–40
Short NJ, Konopleva M, Kadia TM et al (2020) Advances in the Treatment of acute myeloid leukemia: new drugs and new challenges. Cancer Discov 10:506–525
doi: 10.1158/2159-8290.CD-19-1011
pubmed: 32014868
Shallis RM, Wang R, Davidoff A et al (2019) Epidemiology of acute myeloid leukemia: Recent progress and enduring challenges. Blood Rev 36:70–87
doi: 10.1016/j.blre.2019.04.005
pubmed: 31101526
Walter RB, Appelbaum FR, Estey EH (2021) Optimal dosing of cytarabine in induction and post-remission therapy of acute myeloid leukemia. Leukemia 35:295–298
doi: 10.1038/s41375-020-01110-3
pubmed: 33328603
Megías-Vericat JE, Montesinos P, Herrero MJ et al (2016) Pharmacogenomics and the treatment of acute myeloid leukemia. Pharmacogenomics 17:1245–1272
doi: 10.2217/pgs-2016-0055
pubmed: 27381050
Elsayed AH, Cao X, Crews KR et al (2018) Comprehensive Ara-C SNP score predicts leukemic cell intracellular ara-CTP levels in pediatric acute myeloid leukemia patients. Pharmacogenomics 19:1101–1110
doi: 10.2217/pgs-2018-0086
pubmed: 30088438
pmcid: 6219441
Rudd SG, Tsesmetzis N, Sanjiv K et al (2020) Ribonucleotide reductase inhibitors suppress SAMHD 1 ara-CTP ase activity enhancing cytarabine efficacy. EMBO Mol Med 12:e10419
doi: 10.15252/emmm.201910419
pubmed: 31950591
pmcid: 7059017
Riverso M, Montagnani V, Stecca B (2017) KLF4 is regulated by RAS/RAF/MEK/ERK signaling through E2F1 and promotes melanoma cell growth. Oncogene 36:3322–3333
doi: 10.1038/onc.2016.481
pubmed: 28068326
pmcid: 5474568
Fouad S, Hauton D, D’Angiolella V (2020) E2F1: cause and consequence of DNA replication stress. Front Mol Biosci 7:599332
doi: 10.3389/fmolb.2020.599332
pubmed: 33665206
Xia G, Wang H, Song Z et al (2017) Gambogic acid sensitizes gemcitabine efficacy in pancreatic cancer by reducing the expression of ribonucleotide reductase subunit-M2 (RRM2). J Exp Clin Cancer Res 36:107
doi: 10.1186/s13046-017-0579-0
pubmed: 28797284
pmcid: 5553806
Zhu KW, Chen P, Zhang DY et al (2018) Association of genetic polymorphisms in genes involved in Ara-C and dNTP metabolism pathway with chemosensitivity and prognosis of adult acute myeloid leukemia (AML). J Transl Med 16:90
doi: 10.1186/s12967-018-1463-1
pubmed: 29631596
pmcid: 5892020
Leukemia Lymphoma Group CSOH (2021) Chinese guidelines for the diagnosis and treatment of adult acute myeloid leukemia (not APL)(2021). Zhonghua Xue Ye Xue Za Zhi 42:617–623
Cheson BD, Bennett JM, Kopecky KJ et al (2003) Revised recommendations of the international working group for diagnosis, standardization of response criteria, treatment outcomes, and reporting standards for therapeutic trials in acute myeloid leukemia. J Clin Oncol 21:4642–4649
doi: 10.1200/JCO.2003.04.036
pubmed: 14673054
Deng NA, Zhou H, Fan H et al (2017) Single nucleotide polymorphisms and cancer susceptibility. Oncotarget 8:110635
doi: 10.18632/oncotarget.22372
pubmed: 29299175
pmcid: 5746410
Srinivasan S, Clements JA, Batra J (2016) Single nucleotide polymorphisms in clinics: fantasy or reality for cancer? Crit Rev Clin Lab Sci 53:29–39
doi: 10.3109/10408363.2015.1075469
pubmed: 26398894
Han R, Zhao J, Lu L (2020) MicroRNA-34a expression affects breast cancer invasion in vitro and patient survival via downregulation of E2F1 and E2F3 expression. Oncol Rep 43:2062–2072
pubmed: 32186770
Zhao H, Xu Q (2020) Long non-coding RNA DLX6-AS1 mediates proliferation, invasion and apoptosis of endometrial cancer cells by recruiting p300/E2F1 in DLX6 promoter region. J Cell Mol Med 24:12572–12584
doi: 10.1111/jcmm.15810
pubmed: 32951317
pmcid: 7686961
Chun JN, Cho M, Park S et al (2020) The conflicting role of E2F1 in prostate cancer: A matter of cell context or interpretational flexibility? Biochim Biophys Acta Rev Cancer 1873:188336
doi: 10.1016/j.bbcan.2019.188336
pubmed: 31870703
Zhi T, Jiang K, Xu X et al (2019) ECT2/PSMD14/PTTG1 axis promotes the proliferation of glioma through stabilizing E2F1. Neuro Oncol 21:462–473
doi: 10.1093/neuonc/noy207
pubmed: 30590814
Shao Z, Li C, Wu Q et al (2022) ZNF655 accelerates progression of pancreatic cancer by promoting the binding of E2F1 and CDK1. Oncogenesis 11:44
doi: 10.1038/s41389-022-00418-2
pubmed: 35927248
pmcid: 9352668
Yamasaki L, Jacks T, Bronson R et al (1996) Tumor induction and tissue atrophy in mice lacking E2F–1. Cell 85:537–548
doi: 10.1016/S0092-8674(00)81254-4
pubmed: 8653789
Pan H, Yin C, Dyson NJ et al (1998) Key roles for E2F1 in signaling p53-dependent apoptosis and in cell division within developing tumors. Mol Cell 2:283–292
doi: 10.1016/S1097-2765(00)80273-7
pubmed: 9774967
Jiang H, Ge F, Hu B et al (2017) rs35301225 polymorphism in miR-34a promotes development of human colon cancer by deregulation of 3’UTR in E2F1 in Chinese population. Cancer Cell Int 17:39
doi: 10.1186/s12935-017-0402-1
pubmed: 28293146
pmcid: 5345262
Yuan Y, Sturgis EM, Zhu L et al (2017) A functional variant at the miRNA binding site in E2F1 gene is associated with risk and tumor HPV16 status of oropharynx squamous cell carcinoma. Mol Carcinog 56:1100–1106
doi: 10.1002/mc.22576
pubmed: 27677255
Demeyer A, Benhelli-Mokrani H, Chenais B et al (2021) Inhibiting homologous recombination by targeting RAD51 protein. Biochim Biophys Acta Rev Cancer 1876:188597
doi: 10.1016/j.bbcan.2021.188597
pubmed: 34332021
Di Francia R, Crisci S, De Monaco A et al (2021) Response and toxicity to cytarabine therapy in leukemia and lymphoma: from dose puzzle to pharmacogenomic biomarkers. Cancers (Basel) 13:966
doi: 10.3390/cancers13050966
pubmed: 33669053
Xie C, Drenberg C, Edwards H et al (2013) Panobinostat enhances cytarabine and daunorubicin sensitivities in AML cells through suppressing the expression of BRCA1, CHK1, and Rad51. PLoS One 8:e79106
doi: 10.1371/journal.pone.0079106
pubmed: 24244429
pmcid: 3823972
Lin M, Xu M, Xu Z et al (2021) LINC00200 contributes to the chemoresistance to oxaliplatin of gastric cancer cells via regulating E2F1/RAD51 axis. Hum Cell 34:1163–1173
doi: 10.1007/s13577-021-00523-1
pubmed: 33822325
Fang Z, Lin M, Li C et al (2020) A comprehensive review of the roles of E2F1 in colon cancer. Am J Cancer Res 10:757–768
pubmed: 32266089
pmcid: 7136928
Liu T, Ma L, Song L, Yan B, Zhang S, Wang B, Zuo N, Sun X, Deng Y, Ren Q, Li Y, Zhou J, Liu Q, Wei L (2022) CENPM upregulation by E5 oncoprotein of human papillomavirus promotes radiosensitivity in head and neck squamous cell carcinoma. Oral Oncol 129:105858. https://doi.org/10.1016/j.oraloncology.2022.105858
doi: 10.1016/j.oraloncology.2022.105858
pubmed: 35462155
Bayley R, Ward C, Garcia P (2020) MYBL2 amplification in breast cancer: Molecular mechanisms and therapeutic potential. Biochim Biophys Acta Rev Cancer 1874:188407
doi: 10.1016/j.bbcan.2020.188407
pubmed: 32853735
Zhang Y, Hao X, Han G et al (2022) E2F1-mediated GINS2 transcriptional activation promotes tumor progression through PI3K/AKT/mTOR pathway in hepatocellular carcinoma. Am J Cancer Res 12:1707–1726
pubmed: 35530279
pmcid: 9077065
Intuyod K, Saavedra-Garcia P, Zona S et al (2018) FOXM1 modulates 5-fluorouracil sensitivity in cholangiocarcinoma through thymidylate synthase (TYMS): implications of FOXM1-TYMS axis uncoupling in 5-FU resistance. Cell Death Dis 9:1185
doi: 10.1038/s41419-018-1235-0
pubmed: 30538221
pmcid: 6290025
Varghese V, Magnani L, Harada-Shoji N et al (2019) FOXM1 modulates 5-FU resistance in colorectal cancer through regulating TYMS expression. Sci Rep 9:1505
doi: 10.1038/s41598-018-38017-0
pubmed: 30728402
pmcid: 6365533
Nishi R, Shigemi H, Negoro E et al (2020) Venetoclax and alvocidib are both cytotoxic to acute myeloid leukemia cells resistant to cytarabine and clofarabine. BMC Cancer 20:984
doi: 10.1186/s12885-020-07469-x
pubmed: 33046037
pmcid: 7552348
Fajardo-Orduna GR, Ledesma-Martinez E, Aguiniga-Sanchez I et al (2021) Inhibitors of chemoresistance pathways in combination with Ara-C to overcome multidrug resistance in AML. A Mini Review. Int J Mol Sci 22:4955
doi: 10.3390/ijms22094955
pubmed: 34066940
pmcid: 8124548
Fanciullino R, Farnault L, Donnette M et al (2018) CDA as a predictive marker for life-threatening toxicities in patients with AML treated with cytarabine. Blood Adv 2:462–469
doi: 10.1182/bloodadvances.2017014126
pubmed: 29490977
pmcid: 5851420
Diaz-Santa J, Rodriguez-Romanos R, Osca G et al (2020) UGT1A1 genotype influences clinical outcome in patients with intermediate-risk acute myeloid leukemia treated with cytarabine-based chemotherapy. Leukemia 34:2925–2933
doi: 10.1038/s41375-020-0784-2
pubmed: 32152464