Human Papillomavirus: Proving and Using a Viral Cause for Cancer PDF
Preview Human Papillomavirus: Proving and Using a Viral Cause for Cancer
Human Papillomavirus Proving and Using a Viral Cause for Cancer Human Papillomavirus Proving and Using a Viral Cause for Cancer Edited by David Jenkins Emeritus Professor of Pathology, University of Nottingham, United Kingdom Consultant in Pathology to DDL Diagnostic laboratories, Rijswijk, The Netherlands F. Xavier Bosch Cancer Epidemiology Research Program, Catalan Institute of Oncology, Barcelona, Spain AcademicPressisanimprintofElsevier 125LondonWall,LondonEC2Y5AS,UnitedKingdom 525BStreet,Suite1650,SanDiego,CA92101,UnitedStates 50HampshireStreet,5thFloor,Cambridge,MA02139,UnitedStates TheBoulevard,LangfordLane,Kidlington,OxfordOX51GB,UnitedKingdom Copyright©2020ElsevierInc.Allrightsreserved. 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Practitionersandresearchersmustalwaysrelyontheirownexperienceandknowledgeinevaluatingandusingany information,methods,compounds,orexperimentsdescribedherein.Inusingsuchinformationormethodsthey shouldbemindfuloftheirownsafetyandthesafetyofothers,includingpartiesforwhomtheyhaveaprofessional responsibility. Tothefullestextentofthelaw,neitherthePublishernortheauthors,contributors,oreditors,assumeanyliability foranyinjuryand/ordamagetopersonsorpropertyasamatterofproductsliability,negligenceorotherwise,or fromanyuseoroperationofanymethods,products,instructions,orideascontainedinthematerialherein. BritishLibraryCataloguing-in-PublicationData AcataloguerecordforthisbookisavailablefromtheBritishLibrary LibraryofCongressCataloging-in-PublicationData AcatalogrecordforthisbookisavailablefromtheLibraryofCongress ISBN:978-0-12-814457-2 ForInformationonallAcademicPresspublications visitourwebsiteathttps://www.elsevier.com/books-and-journals Publisher:AndreWolff AcquisitionEditor:KattieWashington EditorialProjectManager:LeticiaM.Lima ProductionProjectManager:MariaBernard CoverDesigner:MilesHitchen TypesetbyMPSLimited,Chennai,India Contents List ofContributors...........................................................................................................................xvii Preface..............................................................................................................................................xxiii GeneralIntroduction—The Background toHuman Papillomavirus andCancer Research............xxv CHAPTER 1 A Brief History of Cervical Cancer.......................................................1 David Jenkins Understanding Cervical Cancer—From Paleopathology tothe 19th Century..........2 Transforming WesternMedicine andthe Rise ofMedical Science..........................3 The Idea ofPrevention...............................................................................................6 Cervical Cancer Preventionby Cervical Cytology Screening..................................8 Encouraging Participation inCervical Cancer Screening.........................................9 Evolution ofIdeason the Causes ofCervicalCancer, Male Role, and Transmission ofa CausativeAgent.........................................................................10 Further Reading........................................................................................................11 SECTION 1 PROVING THE ROLE OF HUMAN PAPILLOMAVIRUS IN CERVICAL CANCER: STUDIES IN THE LABORATORY, CLINIC, AND COMMUNITY CHAPTER 2 Linking Human Papillomavirus to Human Cancer and Understanding Its Carcinogenic Mechanisms...................................17 Magnus von Knebel Doeberitz,HeatherCubie, Thomas R.Broker and David Jenkins Animal Papillomaviruses:From Papillomas toCancers.........................................18 The Search for Infectious Agents AssociatedWith Cervical Cancer.....................19 The Failure of the Herpes Hypothesis.....................................................................19 Molecular Tools........................................................................................................19 The Human Papillomavirus Hypothesis...................................................................20 SouthernBlotting......................................................................................................21 Cloning Human Papillomavirus DNAs....................................................................22 Epidermodysplasia Verruciformis............................................................................22 Identifying HPV 11,HPV 16,and HPV 18.............................................................22 Extending the Range ofHPV Types........................................................................23 The Advent ofPCR..................................................................................................24 Studying HPV GeneExpression inLesions............................................................24 HPV 16 and18 inNeoplastic Transformation: E6 andE7 Genes..........................25 v vi Contents Additional Pioneering StudiesofImmortalizationand Transformation..........................................................................................................26 Recapitulation ofThree-Dimensional EpithelialTissues inRaft Cultures as anExperimental Model for Investigations of HPV-Host Tissue Interactions andMechanisms of Carcinogenesis.....................................................27 Conclusion................................................................................................................28 A Vignette:EarlyClinicalExperience WithHuman Papillomavirus AlbertSinger References.................................................................................................................31 CHAPTER 3 Demonstrating the Importance of Different HPVs in Cervical Cancer and Other HPV-Related Cancers............................................41 NuriaGuimera, LaiaAlemany, LaiaBruniand NubiaMun˜oz Introduction...............................................................................................................41 Human Papillomavirus asEtiologicalAgent ofCervical Cancer...........................42 Human Papillomavirus Association With Cervical Cancer: Case-Control Studies.......................................................................................................................43 Human Papillomavirus Prevalence andDistribution inCervical Cancer and Other Human Papillomavirus-Associated Carcinomas.....................................44 Human Papillomavirus-Type Distributionof OncogenicHuman PapillomavirusTypes Across the Full Spectrum of Cervical Disease....................46 Human Papillomavirus Classification andIts Association With Carcinogenicity.........................................................................................................46 Implications..............................................................................................................49 References.................................................................................................................50 CHAPTER 4 Finding How Human Papillomaviruses Alter the Biochemistry and Identity of Infected Epithelial Cells............................................53 SharonC. Wu, Veronica Canarte, Harshita Beeravolu,MirandaGrace, SurendraSharma and Karl Munger Parasitic Lifestyles....................................................................................................53 TheEnigmatic, Illogical Life Cycle ofHigh-RiskHuman Papillomaviruses.......................................................................................................54 Inhibition ofInnateImmune Signaling....................................................................55 Mechanisms That MinimizeHuman Papillomavirus Genome Loss During CellDivision.............................................................................................................56 High-Risk HPV E6 andE7 Trigger and SubvertCell-Intrinsic Defense Mechanisms..............................................................................................................58 Human Papillomavirus Infections Render HostCells Genomically Unstable........59 Concluding Remarks................................................................................................60 References.................................................................................................................61 Contents vii CHAPTER 5 Biology of the Human Papillomavirus Life Cycle: The Basis for Understanding the Pathology of PreCancer and Cancer.............67 John Doorbar, David Jenkins, MarkH. Stoler and Christine Bergeron ProductiveInfection Facilitates the Assembly and ReleaseofVirus Particles.....................................................................................................................68 Genome Maintenance andthe Replication of HPV Genomesin the EpithelialBasal Layer...................................................................................68 ProductiveInfection and Virus Synthesis Occurs inthe Differentiated Layersof the Epithelium.....................................................................................70 Nonproductive InfectionLeads to the Development of Neoplasia.........................71 The Role of HPV Gene Products inthe Progression From Neoplasia toCancer...................................................................................................................72 Understanding the Cervix and Other Vulnerable EpithelialSite inthe DevelopmentofCancer.................................................................................74 Understanding HPV Biology inRelation tothe Pathological Classification ofHPV-Associated Cancersand Precancer, andthe Selection ofTreatment Regimes....................................................................................................................77 Conclusion................................................................................................................80 Acknowledgement....................................................................................................80 References.................................................................................................................80 CHAPTER 6 The Pathology of Cervical Precancer and Cancer and its Importance in Clinical Practice.............................................85 Mark H. Stoler, David Jenkins and Christine Bergeron Introduction: Framingthe Problem..........................................................................85 Terminology:Historical Perspective........................................................................85 DiagnosticProcess andSpecimen Types.................................................................87 Cytologic Specimens (“Pap Smears”).................................................................87 Cervical Biopsy...................................................................................................88 Cone Biopsy.........................................................................................................89 Hysterectomy.......................................................................................................89 Gross Morphology(cid:1)ColposcopicFeatures..............................................................89 Morphology (Histology andCytology)....................................................................90 NormalSquamousEpithelium............................................................................90 Low-Grade SquamousIntraepithelialLesions/CIN1..........................................93 High-Grade IntraepithelialSquamous Lesion: CIN2.........................................94 High-Grade IntraepithelialSquamous Lesion Variants......................................96 SquamousCell Carcinoma..................................................................................98 Glandular Neoplasia...............................................................................................100 Samplingof the Endocervical Epithelium........................................................102 AtypicalGlandular Cells...................................................................................102 Endocervical Adenocarcinoma InSitu.............................................................103 Adenocarcinoma................................................................................................103 viii Contents Using Our Molecular Understanding ofDiseaseProgression toImprove Diagnosis: Detectionof HPV DNA and Biomarkers ofInfection........................103 Biomarkers.........................................................................................................103 Biomarkers onCytology Samples..........................................................................105 Triageof HPV-Positive Women.......................................................................105 p16/ki-67 Dual Stain.........................................................................................105 Clinical Course andManagement ofCervical Neoplasia.....................................105 Low-Grade Squamous Intraepithelial Lesions Behavior/Management............106 High-Grade Intraepithelial Squamous Lesion Behavior/Management.............106 Further Reading......................................................................................................107 CHAPTER 7 Developing and Standardizing Human Papillomavirus Tests.........111 Attila Lorincz, CosetteMarieWheeler, Kate Cuschieri,Daan Geraets, Chris J.L.M. Meijer and WimQuint Historical Development..........................................................................................111 Discovery of Human Papillomavirus................................................................111 CloningofHuman Papillomavirus....................................................................112 First Wave of Human PapillomavirusDNA Tests...........................................113 Spectrum ofAnogenital Human Papillomavirus Types...................................116 First Commercial Human Papillomavirus DNA Tests.....................................116 TargetAmplification for Detection ofHuman Papillomavirus DNA..............118 Broad-Spectrum Polymerase Chain Reaction...................................................118 Type-SpecificPolymerase Chain Reaction.......................................................118 Detection ofHuman Papillomavirus mRNA....................................................119 Polymerase ChainReaction Read-Out Methods...............................................119 Designand Performance Assessmentof Human Papillomavirus Tests................119 Intended Use......................................................................................................119 Clinical Specimen, Collection, andProcessing................................................120 TargetSelection and Amplification..................................................................120 Human Papillomavirus DNA Detection Tests With Partialand Full Spectrum Genotyping........................................................................................120 Performance Assessment ofHPV Testsand Requirements for Ongoing Quality Assurance...................................................................................................121 Analytical Versus Clinical Performance...........................................................121 Proficiency Panels.............................................................................................122 Internal/Endogenous Control.............................................................................122 BriefSummary ofSelected Commercial Human Papillomavirus Tests...............123 The Hybrid Capture 2HumanPapillomavirusDNA Test...............................123 GP51/61 System...........................................................................................123 SPF10/DEIA/LiPA System............................................................................124 25 Contents ix The LINEAR ARRAYHuman Papillomavirus Genotyping System................................................................................................................124 The Cobas 4800HumanPapillomavirusTest (Roche Cobas).........................124 The APTIMA HumanPapillomavirusassay....................................................124 The BDOnclarity Human Papillomavirus Assay.............................................125 The Xpert Human Papillomavirus Assay..........................................................125 Future Perspectives.................................................................................................125 Vaccinology.......................................................................................................125 Human Papillomavirus Surveillance.................................................................126 Human Papillomavirus-Based Screening..........................................................126 Cervical Screening inVaccinated Women.......................................................126 Full Molecular-Based Screening.......................................................................127 Next Generation Sequencing.............................................................................127 Overview andSummary.........................................................................................128 References...............................................................................................................128 CHAPTER 8 Proving the Causal Role of Human Papillomavirus in Cervical Cancer: A Tale of Multidisciplinary Science..............................................................................................131 EduardoL. FrancoandF. Xavier Bosch Avoidinga Clash Between Different Lines ofScientificEvidence......................131 LearningFrom Errors.............................................................................................133 ANew Beginningfor Molecular Epidemiology...................................................136 The Birth ofa New Paradigm inCancer Prevention.............................................137 Moving From Understanding Etiology toImprovingCervical Cancer Screening................................................................................................................140 The Opportunity toPrevent Cervical Cancer With a Vaccine..............................141 From Discovery to aNobelPrize..........................................................................142 References...............................................................................................................144 CHAPTER 9 The Natural History of Human Papillomavirus Infection in Relation to Cervical Cancer.........................................................149 Anna-Barbara Moscicki, Mark Schiffman and Silva Franceschi Key Bullet Points....................................................................................................149 Transmission ofHuman Papillomavirus................................................................152 Lack ofStrongEpidemiologic Indicators for Human Papillomavirus Persistence (or Clearance)......................................................................................153 Roles of Parity, Female Hormones and Tobacco..................................................154 References...............................................................................................................156 x Contents SECTION 2 HUMAN PAPILLOMAVIRUS BEYOND CERVICAL CANCER CHAPTER 10 Low-risk Human Papillomavirus: Genital Warts, Cancer and Respiratory Papillomatosis.......................................................165 Charles J.N. Lacey, NuriaGuimeraand Suzanne M. Garland TheProblem:Genital Warts and Laryngeal Papillomatosis.................................165 Historical Aspectsof Genital Warts andLaryngeal Papillomatosis.....................166 Risk Factors, Natural History,and Treatment ofGenital Warts and Laryngeal Papillomatosis.......................................................................................167 Pathology of Genital Warts and Laryngeal Papillomatosis...................................168 Human Papillomavirus inGenital Warts and Laryngeal Papillomatosis..............169 Low-Risk Human Papillomavirus Types andCancer...........................................172 Therapeutic andProphylactic Vaccines AgainstGenital Warts and Laryngeal Papillomatosis.........................................................................................................173 Past, Present, and Future Epidemiology of Genital Warts andLaryngeal Papillomatosis.........................................................................................................174 Conclusion..............................................................................................................175 Acknowledgements.................................................................................................175 References...............................................................................................................175 CHAPTER 11 Human Papillomavirus Infection and Related Diseases Among Men.......................................................................................179 Anna R.Giuliano Wherethe Story ofMale Human Papillomavirus Infection Among HeterosexualMen Began: TheMaleFactorin Cervical Carcinogenesis.............179 Human Papillomavirus Natural History inHeterosexual Men—Past and CurrentUnderstanding....................................................................................179 TheHIM Study: Population and Procedures..........................................................180 Genital Human Papillomavirus Infection..............................................................181 AnalHuman Papillomavirus Infection...................................................................181 Oral Human PapillomavirusInfection...................................................................182 Human Papillomavirus Serology............................................................................183 HeterosexualHuman PapillomavirusTransmission..............................................183 References...............................................................................................................184 CHAPTER 12 Anal HPV Infection and HPV-Associated Disease...........................195 Joel M. Palefsky Studiesof Anal HPV Infection: Their Origins andInspirations...........................195 DevelopmentofTools toStudy Anal HPV Infection and HPV-associated Diseases...................................................................................................................196 AnalCancer and Immune Suppression..................................................................198 AnalCancer in HIV-infectedMen andWomen inthe era of Antiretroviral Therapy...................................................................................................................201
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