中文｜English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 37 Issue 5
May  2021
Turn off MathJax
Article Contents
Article Navigation >  Journal of Clinical Hepatology  > 2021  >  37(5): 1208-1211

Pathogenesis and prevention strategy of hepatocellular carcinoma in acute intermittent porphyria

DOI: 10.3969/j.issn.1001-5256.2021.05.049
  • 1a.

    The First Clinical Medical College, Shanxi Medical University, Taiyuan 030001, China

  • 1b.

    College of Anesthesiology, Shanxi Medical University, Taiyuan 030001, China

  • 2.

    Department of Endocrinology, First Hospital of Shanxi Medical University, Talyuan 030001, China

  • Received Date: 2020-10-15
  • Accepted Date: 2020-11-12
  • Published Date: 2021-05-20
    Abstract
  • With the development of genetics and molecular biology, the research on acute intermittent porphyria (AIP) has been gradually deepened, and its complication hepatocellular carcinoma (HCC) has attracted more and more attention. This article mainly summarizes the research advances in the pathogenesis and prevention of HCC in AIP. The pathogenesis of AIP with HCC is associated with oxidative stress, p53 mutation, downregulation of Bcl-2, increase in inflammatory cytokines, and iron overload, and its prevention strategies include the use of statins, strict management, liver transplantation, gene therapy, and enzyme replacement therapy. This article reviews the latest advances in the pathogenesis and prevention of AIP with HCC.

     

    • FullText(HTML)
  • loading
    • References(43)
  • [1]
    SZLENDAK U, BYKOWSKA K, LIPNIACKA A. Clinical, biochemical and molecular characteristics of the main types of porphyria[J]. Adv Clin Exp Med, 2016, 25(2): 361-368. DOI: 10.17219/acem/58955.
    [2]
    OMATA M, CHENG AL, KOKUDO N, et al. Asia-Pacific clinical practice guidelines on the management of hepatocellular carcinoma: A 2017 update[J]. Hepatol Int, 2017, 11(4): 317-370. DOI: 10.1007/s12072-017-9799-9.
    [3]
    STEWART MF. Review of hepatocellular cancer, hypertension and renal impairment as late complications of acute porphyria and recommendations for patient follow-up[J]. J Clin Pathol, 2012, 65(11): 976-980. DOI: 10.1136/jclinpath-2012-200791.
    [4]
    SARDH E, WAHLIN S, BJÖRNSTEDT M, et al. High risk of primary liver cancer in a cohort of 179 patients with acute hepatic porphyria[J]. J Inherit Metab Dis, 2013, 36(6): 1063-1071. DOI: 10.1007/s10545-012-9576-9.
    [5]
    PUY H, GOUYA L, DEYBACH JC. Porphyrias[J]. Lancet, 2010, 375(9718): 924-937. DOI: 10.1016/S0140-6736(09)61925-5.
    [6]
    LITHNER F, WETTERBERG L. Hepatocellular carcinoma in patients with acute intermittent porphyria[J]. Acta Med Scand, 1984, 215(3): 271-274. DOI: 10.1111/j.0954-6820.1984.tb05005.x.
    [7]
    INNALA E, ANDERSSON C. Screening for hepatocellular carcinoma in acute intermittent porphyria: A 15-year follow-up in northern Sweden[J]. J Intern Med, 2011, 269(5): 538-545. DOI: 10.1111/j.1365-2796.2010.02335.x.
    [8]
    KAUPPINEN R, MUSTAJOKI P. Acute hepatic porphyria and hepatocellular carcinoma[J]. Br J Cancer, 1988, 57(1): 117-120. DOI: 10.1038/bjc.1988.23.
    [9]
    ANDANT C, PUY H, BOGARD C, et al. Hepatocellular carcinoma in patients with acute hepatic porphyria: Frequency of occurrence and related factors[J]. J Hepatol, 2000, 32(6): 933-939. DOI: 10.1016/s0168-8278(00)80097-5.
    [10]
    SCHNEIDER-YIN X, HARMS J, MINDER EI. Porphyria in Switzerland, 15 years experience[J]. Swiss Med Wkly, 2009, 139(13-14): 198-206. http://europepmc.org/abstract/MED/19350426
    [11]
    ELDER G, HARPER P, BADMINTON M, et al. The incidence of inherited porphyrias in Europe[J]. J Inherit Metab Dis, 2013, 36(5): 849-857. DOI: 10.1007/s10545-012-9544-4.
    [12]
    ANDERSSON C, BJERSING L, LITHNER F. The epidemiology of hepatocellular carcinoma in patients with acute intermittent porphyria[J]. J Intern Med, 1996, 240(4): 195-201. DOI: 10.1046/j.1365-2796.1996.21847000.x.
    [13]
    SMITH AG, FOSTER JR. The association between chemical-induced porphyria and hepatic cancer[J]. Toxicol Res (Camb), 2018, 7(4): 647-663. DOI: 10.1039/c8tx00019k.
    [14]
    DEYBACH JC, PUY H. Hepatocellular carcinoma without cirrhosis: Think acute hepatic porphyrias and vice versa[J]. J Intern Med, 2011, 269(5): 521-524. DOI: 10.1111/j.1365-2796.2011.02358.x.
    [15]
    MENEZES PR, GONZÁLEZ CB, DESOUZA AO, et al. Effect of 5-aminolevulinic acid on the expression of carcinogenesis-related proteins in cultured primary hepatocytes[J]. Mol Biol Rep, 2018, 45(6): 2801-2809. DOI: 10.1007/s11033-018-4367-5.
    [16]
    HE P, LI Z, XU F, et al. AMPK activity contributes to G2 arrest and DNA damage decrease via p53/p21 pathways in oxidatively damaged mouse zygotes[J]. Front Cell Dev Biol, 2020, 8: 539485. DOI: 10.3389/fcell.2020.539485.
    [17]
    MOXLEY AH, REISMAN D. Context is key: Understanding the regulation, functional control, and activities of the p53 tumour suppressor[J]. Cell Biochem Funct, 2021, 39(2): 235-247. DOI: 10.1002/cbf.3590.
    [18]
    HOLLSTEIN M, SIDRANSKY D, VOGELSTEIN B, et al. p53 mutations in human cancers[J]. Science, 1991, 253(5015): 49-53. DOI: 10.1126/science.1905840.
    [19]
    KØNIG SM, RISSLER V, TERKELSEN T, et al. Alterations of the interactome of Bcl-2 proteins in breast cancer at the transcriptional, mutational and structural level[J]. PLoS Comput Biol, 2019, 15(12): e1007485. DOI: 10.1371/journal.pcbi.1007485.
    [20]
    MURPHY KL, KITTRELL FS, GAY JP, et al. Bcl-2 expression delays mammary tumor development in dimethylbenz(a)anthracene-treated transgenic mice[J]. Oncogene, 1999, 18(47): 6597-6604. DOI: 10.1038/sj.onc.1203099.
    [21]
    PIERCE RH, VAIL ME, RALPH L, et al. Bcl-2 expression inhibits liver carcinogenesis and delays the development of proliferating foci[J]. Am J Pathol, 2002, 160(5): 1555-1560. DOI: 10.1016/S0002-9440(10)61101-7.
    [22]
    PALLET N, MAMI I, SCHMITT C, et al. High prevalence of and potential mechanisms for chronic kidney disease in patients with acute intermittent porphyria[J]. Kidney Int, 2015, 88(2): 386-395. DOI: 10.1038/ki.2015.97.
    [23]
    LIU Z, CHEN D, NING F, et al. EGF is highly expressed in hepatocellular carcinoma (HCC) and promotes motility of HCC cells via fibronectin[J]. J Cell Biochem, 2018, 119(5): 4170-4183. DOI: 10.1002/jcb.26625.
    [24]
    LIANG J, LIAO J, LIU T, et al. Comprehensive analysis of TGF-β-induced mRNAs and ncRNAs in hepatocellular carcinoma[J]. Aging (Albany NY), 2020, 12(19): 19399-19420. DOI: 10.18632/aging.103826.
    [25]
    TAKAKI A, YAMAMOTO K. Control of oxidative stress in hepatocellular carcinoma: Helpful or harmful?[J]. World J Hepatol, 2015, 7(7): 968-979. DOI: 10.4254/wjh.v7.i7.968.
    [26]
    HOMEDAN C, SCHMITT C, LAAFI J, et al. Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria[J]. Hum Mol Genet, 2015, 24(17): 5015-5023. DOI: 10.1093/hmg/ddv222.
    [27]
    EMANUELLI T, PAGEL FW, PORCI U ' NCULA LO, et al. Effects of 5-aminolevulinic acid on the glutamatergic neurotransmission[J]. Neurochem Int, 2003, 42(2): 115-121. DOI: 10.1016/s0197-0186(02)00074-8.
    [28]
    NIEDERAU C, FISCHER R, PVRSCHEL A, et al. Long-term survival in patients with hereditary hemochromatosis[J]. Gastroenterology, 1996, 110(4): 1107-1119. DOI: 10.1053/gast.1996.v110.pm8613000.
    [29]
    MIYANISHI K, TANAKA S, SAKAMOTO H, et al. The role of iron in hepatic inflammation and hepatocellular carcinoma[J]. Free Radic Biol Med, 2019, 133: 200-205. DOI: 10.1016/j.freeradbiomed.2018.07.006.
    [30]
    WILLANDT B, LANGENDONK JG, BIERMANN K, et al. Liver fibrosis associated with iron accumulation due to long-term heme-arginate treatment in acute intermittent porphyria: A Case Series[J]. JIMD Rep, 2016, 25: 77-81. DOI: 10.1007/8904_2015_458.
    [31]
    AGREN R, MARDINOGLU A, ASPLUND A, et al. Identification of anticancer drugs for hepatocellular carcinoma through personalized genome-scale metabolic modeling[J]. Mol Syst Biol, 2014, 10(3): 721. DOI: 10.1002/msb.145122.
    [32]
    SINGH S, SINGH PP. Statins for prevention of hepatocellular cancer: One step closer?[J]. Hepatology, 2014, 59(2): 724-726. DOI: 10.1002/hep.26614.
    [33]
    DAR FS, ASAI K, HAQUE AR, et al. Liver transplantation for acute intermittent porphyria: A viable treatment?[J]. Hepatobiliary Pancreat Dis Int, 2010, 9(1): 93-96. http://europepmc.org/abstract/MED/20133237
    [34]
    MALINZAK EB, KNUDSEN NW, UDANI AD, et al. Perioperative challenges in liver transplantation for a patient with acute intermittent porphyria[J]. J Cardiothorac Vasc Anesth, 2018, 32(6): 2716-2720. DOI: 10.1053/j.jvca.2017.11.045.
    [35]
    D'AVOLA D, LÓPEZ-FRANCO E, SANGRO B, et al. Phase Ⅰ open label liver-directed gene therapy clinical trial for acute intermittent porphyria[J]. J Hepatol, 2016, 65(4): 776-783. DOI: 10.1016/j.jhep.2016.05.012.
    [36]
    SERRANO-MENDIOROZ I, SAMPEDRO A, SERNA N, et al. Bioengineered PBGD variant improves the therapeutic index of gene therapy vectors for acute intermittent porphyria[J]. Hum Mol Genet, 2018, 27(21): 3688-3696. DOI: 10.1093/hmg/ddy283.
    [37]
    JIANG L, BERRAONDO P, JERICÓ D, et al. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria[J]. Nat Med, 2018, 24(12): 1899-1909. DOI: 10.1038/s41591-018-0199-z.
    [38]
    de PAULA BRANDÃO PR, TITZE-de-ALMEIDA SS, TITZE-de-ALMEIDA R. Leading RNA interference therapeutics part 2: Silencing delta-aminolevulinic acid synthase 1, with a focus on givosiran[J]. Mol Diagn Ther, 2020, 24(1): 61-68. DOI: 10.1007/s40291-019-00438-6.
    [39]
    SARDH E, HARPER P, BALWANI M, et al. Phase 1 trial of an RNA interference therapy for acute intermittent porphyria[J]. N Engl J Med, 2019, 380(6): 549-558. DOI: 10.1056/NEJMoa1807838.
    [40]
    SCOTT LJ. Givosiran: First approval[J]. Drugs, 2020, 80(3): 335-339. DOI: 10.1007/s40265-020-01269-0.
    [41]
    BUSTAD HJ, TOSKA K, SCHMITT C, et al. A pharmacological chaperone therapy for acute intermittent porphyria[J]. Mol Ther, 2020, 28(2): 677-689. DOI: 10.1016/j.ymthe.2019.11.010.
    [42]
    CHEN B, SOLIS-VILLA C, HAKENBERG J, et al. Acute intermittent porphyria: Predicted pathogenicity of HMBS variants indicates extremely low penetrance of the autosomal dominant disease[J]. Hum Mutat, 2016, 37(11): 1215-1222. DOI: 10.1002/humu.23067.
    [43]
    MUTLUAY B, KÖKSAL A, ÇELIK R, et al. A case of acute intermittent porphyria mimicking guillain-barré syndrome[J]. Noro Psikiyatr Ars, 2019, 56(4): 311-312. DOI: 10.5152/npa.2017.19474.
    • Relative Articles
    • Supplements(0)
    • Cited By
  • 加载中

Catalog

    通讯作者: 陈斌, bchen63@163.com
    • 1. 

      沈阳化工大学材料科学与工程学院 沈阳 110142

    1. 本站搜索
    2. 百度学术搜索
    3. 万方数据库搜索
    4. CNKI搜索
    Get Citation
    PDF
    XML

    Article Metrics

    Article views (526) PDF downloads(29) Cited by()
    Proportional views
    Related
        

    The first journal specializing in hepatobiliary and pancreatic diseases in China

    Supervisor：Ministry of Education of the People's Republic of China

    Sponsor：Jilin University

    Academic Support: Chinese Society of Hepatology，Chinese Medical Association

    Address: 461 Xinjiang Road, Changchun

    Submit：0431-88782044

    Peer review：0431-88783542

    Email：lcgdb@vip.163.com

    About Journal

    Submission Guideline

    Journal Online

    Hepatobiliary College

    Guidelines

    YesterdayIP[]YesterdayPV[]TodayIP[]TodayPV[]Online[]

    Website Design © 2020 Editorial Board of Journal of Clinical Hepatology 吉ICP备10000617号-1 Supported by: Beijing Renhe Information Technology Co. Ltd  

    /

    DownLoad:  Full-Size Img  PowerPoint
    Return
    Return