中文English
ISSN 1001-5256 (Print)
ISSN 2097-3497 (Online)
CN 22-1108/R
Volume 36 Issue 7
Jul.  2020
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Article Contents
  • In hepatobiliary carcinoma,serologic and histologic biomarkers including proteins and genes have been recommended and categorized for cancer diagnosis,targeted therapy and immunotherapy regimen selection,as well as prognostic prediction at different levels. To standardize the application of molecular biomarkers in clinical diagnosis,therapeutic evaluation,and prognosis prediction of primary hepatobiliary carcinoma,the specialist committee has summarized the current well studies biomarkers with clinical significance in both serum and tumor tissue as well as provided professional agreements on their potential utilization in this consensus. Moreover,we have made recommendations on standards for laboratory detection,technical operation,data analysis,result interpretation,clinical report,and the whole-process quality management in serological,histopathological detection and next-generation sequencing. According to these,the committee aims to offer clinical staffs with scientific and practical references and guidance to achieve better personalized treatment decisions from these up-to-date knowledges of molecular diagnosis on hepatobiliary carcinoma.

     

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  • [1]TREVISANI F,D'INTINO PE,MORSELLI-LABATE AM,et al.Serum alpha-fetoprotein for diagnosis of hepatocellular carcinoma in patients with chronic liver disease:Influence of HBs Ag and anti-HCV status[J].J Hepatol,2001,34(4):570-575.
    [2]YI X,YU S,BAO Y.Alpha-fetoprotein-L3 in hepatocellular carcinoma:A meta-analysis[J].Clin Chim Acta,2013,425(21):212-220.
    [3]KOKUDO N,HASEGAWA K,AKAHANE M,et al.Evidence-based clinical practice guidelines for hepatocellular carcinoma:The Japan Society of Hepatology 2013 update(3rd JSH-HCC Guidelines)[J].Hepatol Res,2015,45(2):123-127.
    [4]KOH WJ,GREER BE,ABU-RUSTUM NR,et al.Vulvar cancer,version 1.2017,NCCN clinical practice guidelines in oncology[J].J Natl Compr Canc Netw,2017,15(1):92-120.
    [5] Anti-cancer Association of China.Guideline for the diagnosis and therapy of hilar cholangiocarcinoma(2015)[J].Chin J Hepatobiliary Surg,2015,21(8):505-511.(in Chinese)中国抗癌协会.肝门部胆管癌规范化诊治专家共识(2015)[J].中华肝胆外科杂志,2015,21(8):505-511.
    [6]MARRERO JA,ROMANO PR,NIKOLAEVA O,et al.GP73,a resident Golgi glycoprotein,is a novel serum marker for hepatocellular carcinoma[J].J Hepatol,2005,43(6):1007-1012.
    [7]GERAMIZADEH B,SEIRFAR N.Diagnostic value of arginase-1and glypican-3 in differential diagnosis of hepatocellular carcinoma,cholangiocarcinoma and metastatic carcinoma of liver[J].Hepat Mon,2015,15(7):e30336.
    [8]COHEN JD,LI L,WANG Y,et al.Detection and localization of surgically resectable cancers with a multi-analyte blood test[J].Science,2018,359(6378):926-930.
    [9]QU C,WANG Y,WANG P,et al.Detection of early-stage hepatocellular carcinoma in asymptomatic HBs Ag-seropositive individuals by liquid biopsy[J].Proc Natl Acad Sci U S A,2019,116(13):6308-6312.
    [10]XU RH,WEI W,KRAWCZYK M,et al.Circulating tumour DNAmethylation markers for diagnosis and prognosis of hepatocellular carcinoma[J].Nat Mater,2017,16(11):1155-1161.
    [11]CHENG J,WEI D,JI Y,et al.Integrative analysis of DNA methylation and gene expression reveals hepatocellular carcinoma-specific diagnostic biomarkers[J].Genome Med,2018,10(1):42.
    [12]QU Y,SHI L,WANG D,et al.Low frequency of TERT promoter mutations in a large cohort of gallbladder and gastric cancers[J].Int JCancer,2014,134(12):2993-2994.
    [13]ZHOU J,YU L,GAO X,et al.Plasma microRNA panel to diagnose hepatitis B virus-related hepatocellular carcinoma[J].J Clin Oncol,2011,29(36):4781-4788.
    [14]JI J,SHI J,BUDHU A,et al.MicroRNA expression,survival,and response to interferon in liver cancer[J].N Engl J Med,2009,361(15):1437-1447.
    [15]ZUCMAN-ROSSI J,VILLANUEVA A,NAULT JC,et al.Genetic landscape and biomarkers of hepatocellular carcinoma[J].Gastroenterology,2015,149(5):1226-1239.e4.
    [16]HORWITZ E,STEIN I,BEN-NERIAH Y,et al.Animal model studies indicate a candidate biomarker for sorafenib treatment of hepatocellular carcinoma[J].Mol Cell Oncol,2015,2(1):e968028.
    [17]LIM HY,HEO J,CHOI HJ,et al.A phase II study of the efficacy and safety of the combination therapy of the MEK inhibitor refametinib(BAY 86-9766)plus sorafenib for Asian patients with unresectable hepatocellular carcinoma[J].Clin Cancer Res,2014,20(23):5976-5985.
    [18]XIANG Q,CHEN W,REN M,et al.Cabozantinib suppresses tumor growth and metastasis in hepatocellular carcinoma by a dual blockade of VEGFR2 and MET[J].Clin Cancer Res,2014,20(11):2959-2970.
    [19]HARDING JJ,NANDAKUMAR S,ARMENIA J,et al.Prospective genotyping of hepatocellular carcinoma:Clinical implications of nextgeneration sequencing for matching patients to targeted and immune therapies[J].Clin Cancer Res,2019,25(7):2116-2126.
    [20]ZHOU SL,ZHOU ZJ,HU ZQ,et al.Genomic sequencing identifies WNK2 as a driver in hepatocellular carcinoma and a risk factor for early recurrence[J].J Hepatol,2019,71(6):1152-1163.
    [21]LEIJEN S,van GEEL RM,PAVLICK AC,et al.Phase I study evaluating WEE1 inhibitor AZD1775 as monotherapy and in combination with gemcitabine,cisplatin,or carboplatin in patients with advanced solid tumors[J].J Clin Oncol,2016,34(36):4371-4380.
    [22]Cancer Genome Atlas Research Network.Comprehensive and integrative genomic characterization of hepatocellular carcinoma[J].Cell,2017,169(7):1327-1341.e23.
    [23]RAZUMILAVA N,GORES GJ.Cholangiocarcinoma[J].Lancet,2014,383(9935):2168-2179.
    [24]JIAO Y,PAWLIK TM,ANDERS RA,et al.Exome sequencing identifies frequent inactivating mutations in BAP1,ARID1A and PBRM1in intrahepatic cholangiocarcinomas[J].Nat Genet,2013,45(12):1470-1473.
    [25]WARDELL CP,FUJITA M,YAMADA T,et al.Genomic characterization of biliary tract cancers identifies driver genes and predisposing mutations[J].J Hepatol,2018,68(5):959-969.
    [26]LAU DK,TAY RY,YEUNG YH,et al.Phase II study of everolimus(RAD001)monotherapy as first-line treatment in advanced biliary tract cancer with biomarker exploration:The RADi Chol Study[J].Br J Cancer,2018,118(7):966-971.
    [27]GEORGE S,MIAO D,DEMETRI GD,et al.Loss of PTEN is associated with resistance to anti-PD-1 checkpoint blockade therapy in metastatic uterine leiomyosarcoma[J].Immunity,2017,46(2):197-204.
    [28]LIN J,SHI J,GUO H,et al.Alterations in DNA damage repair genes in primary liver cancer[J].Clin Cancer Res,2019,25(15):4701-4711.
    [29]JAVLE M,BEKAII-SAAB T,JAIN A,et al.Biliary cancer:Utility of next-generation sequencing for clinical management[J].Cancer,2016,122(24):3838-3847.
    [30]SAHA SK,ZHU AX,FUCHS CS,et al.Forty-year trends in cholangiocarcinoma incidence in the U.S.:Intrahepatic disease on the rise[J].Oncologist,2016,21(5):594-599.
    [31]JAVLE M,LOWERY M,SHROFF RT,et al.Phase II study of BGJ398 in patients with FGFR-altered advanced cholangiocarcinoma[J].J Clin Oncol,2018,36(3):276-282.
    [32]AACR Project GENIE Consortium.AACR project GENIE:Powering precision medicine through an international consortium[J].Cancer Discov,2017,7(8):818-831.
    [33]JAVLE M,CHURI C,KANG HC,et al.HER2/neu-directed therapy for biliary tract cancer[J].J Hematol Oncol,2015,8:58.
    [34]SORSCHER S.Marked radiographic response of a HER-2-overexpressing biliary cancer to trastuzumab[J].Cancer Manag Res,2013,9:1-3.
    [35]LAW LY.Dramatic response to trastuzumab and paclitaxel in a patient with human epidermal growth factor receptor 2-positive metastatic cholangiocarcinoma[J].J Clin Oncol,2012,30(27):e271-e273.
    [36]GOEPPERT B,FRAUENSCHUH L,RENNER M,et al.BRAFV600E-specific immunohistochemistry reveals low mutation rates in biliary tract cancer and restriction to intrahepatic cholangiocarcinoma[J].Mod Pathol,2014,27(7):1028-1034.
    [37]FLAHERTY KT,INFANTE JR,DAUD A,et al.Combined BRAFand MEK inhibition in melanoma with BRAF V600 mutations[J].NEngl J Med,2012,367(18):1694-1703.
    [38]CHEN G,HUANG AC,ZHANG W,et al.Exosomal PD-L1 contributes to immunosuppression and is associated with anti-PD-1 response[J].Nature,2018,560(7718):382-386.
    [39]LE DT,URAM JN,WANG H,et al.PD-1 blockade in tumors with mismatch-repair deficiency[J].N Engl J Med,2015,372(26):2509-2520.
    [40]ANG C,KLEMPNER SJ,ALI SM,et al.Prevalence of established and emerging biomarkers of immune checkpoint inhibitor response in advanced hepatocellular carcinoma[J].Oncotarget,2019,10(40):4018-4025.
    [41]MOU H,YU L,LIAO Q,et al.Successful response to the combination of immunotherapy and chemotherapy in cholangiocarcinoma with high tumour mutational burden and PD-L1 expression:A case report[J].BMC Cancer,2018,18(1):1105.
    [42] HAVEL JJ,CHOWELL D,CHAN TA.The evolving landscape of biomarkers for checkpoint inhibitor immunotherapy[J].Nat Rev Cancer,2019,19(3):133-150.
    [43]PINYOL R,SIA D,LLOVET JM.Immune exclusion-Wnt/CTNNB1class predicts resistance to immunotherapies in HCC[J].Clin Cancer Res,2019,25(7):2021-2023.
    [44]TAN WF,LIU MQ,HE PS.Discuss the standardized management of immunohistochemical quality control[J].China Mod Doct,2013,51(31):134-136,139.(in Chinese)谭卫峰,刘庆猛,何平生.免疫组化质量控制的标准化管理[J].中国现代医生,2013,51(31):134-136,139.
    [45] General Administration of Quality Supervision,Inspection and Quarantine of the People's Republic of China,China National Standardization Administration Committee.GB19489-2008 General requirements for laboratory biosafety[S].Beijing:Standards Press of China,2008.(in Chinese)中华人民共和国国家质量监督检验检疫总局,中国国家标准化管理委员会.GB19489-2008《实验室生物安全通用要求》[S].北京:中国标准出版社,2008.
    [46]Expert Consensus on Second Generation Gene Sequencing in Clinical Molecular Pathology Laboratory.Expert consensus on the second generation gene sequencing test in clinical molecular pathology laboratory[J].Chin J Pathol,2017,46(3):145-148.(in Chinese)《临床分子病理实验室二代基因测序检测专家共识》编写组.临床分子病理实验室二代基因测序检测专家共识[J].中华病理学杂志,2017,46(3):145-148.
    [47]VILLANUEVA A.Hepatocellular carcinoma[J].N Engl J Med,2019,380(15):1450-1462.
    [48]O'DONNELL JS,TENG M,SMYTH MJ.Cancer immunoediting and resistance to T cell-based immunotherapy[J].Nat Rev Clin Oncol,2019,16(3):151-167.
    [49]CHAMPIAT S,DERCLE L,AMMARI S,et al.Hyperprogressive disease is a new pattern of progression in cancer patients treated by anti-PD-1/PD-L1[J].Clin Cancer Res,2017,23(8):1920-1928.
    [50]FERRARA R,MEZQUITA L,TEXIER M,et al.Hyperprogressive disease in patients with advanced non-small cell lung cancer treated with PD-1/PD-L1 inhibitors or with single-agent chemotherapy[J].JAMA Oncol,2018,4(11):1543-1552.
    [51]KATO S,GOODMAN A,WALAVALKAR V,et al.Hyperprogressors after immunotherapy:Analysis of genomic alterations associated with accelerated growth rate[J].Clin Cancer Res,2017,23(15):4242-4250.
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