Surveillance colonoscopy in: Prior polyps/IBD/Inherited disorders

AshutoshAshutosh Barve,Barve, M.D.,M.D., Ph.D.Ph.D. Gastroenterology/HepatologyGastroenterology/Hepatology FellowFellow UniversityUniversity ofof LouisvilleLouisville

University of Louisville Colonoscopy

AsymptomaticAsymptomatic SymptomaticSymptomatic

ScreeningScreening SurveillanceSurveillance

University of Louisville Screening

ScreeningScreening refersrefers toto examinationsexaminations thatthat areare performedperformed inin anan asymptomaticasymptomatic populationpopulation inin anan attemptattempt toto identifyidentify preclinicalpreclinical diseasedisease andand alteralter itsits naturalnatural historyhistory soso asas toto reducereduce morbiditymorbidity andand mortalitymortality

University of Louisville GastroenterologyGastroenterology-- 20032003 (Vol.(Vol. 124,124, IssueIssue 2:2: 18651865--18711871 ))

ColorectalColorectal cancercancer screeningscreening andand surveillance:surveillance: ClinicalClinical guidelinesguidelines andand rationalerationale——UpdateUpdate basedbased onon newnew evidenceevidence SidneySidney Winawer,Winawer, RobertRobert Fletcher,Fletcher, DouglasDouglas Rex,Rex, JohnJohn Bond,Bond, RandallRandall Burt,Burt, JosephJoseph FerrucciFerrucci ,, TheodoreTheodore Ganiats,Ganiats, TheodoreTheodore Levin,Levin, StevenSteven Woolf,Woolf, DavidDavid Johnson,Johnson, LynneLynne Kirk,Kirk, ScottScott Litin,Litin, CliffordClifford SimmangSimmang forfor thethe U.S.U.S. MultisocietyMultisociety TaskTask ForceForce onon UniversityColorectalColorectal of CancerCancer Louisville Screening algorithm

University of Louisville Gastroenterology- 2003 (Vol. 124, Issue 2: 1865-1871) Surveillance

SurveillanceSurveillance isis thethe examinationsexaminations thatthat areare performedperformed inin aa patientpatient withwith knownknown previousprevious diseasedisease inin anan attemptattempt toto modifymodify andand addressaddress futurefuture riskrisk

University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885)

Guidelines for Colonoscopy Surveillance After Polypectomy: A Consensus Update by the US Multi-Society Task Force on Colorectal Cancer and the American Cancer Society

Winawer SJ, Zauber AG, Fletcher RH, Stillman JS, O’Brien MJ, Levin B, Smith RA, Lieberman DA, Burt RW, Levin TR, Bond JH, Brooks D, Byers T, Hyman N, Kirk L, Thorson A, Simmang C, Johnson D, Rex DK University of Louisville Why new guidelines?

„ LargeLarge numbernumber ofof patientspatients withwith adenomasadenomas identifiedidentified „ SurveillanceSurveillance isis aa hugehuge burdenburden onon medicalmedical resourcesresources „ NeedNeed forfor increasedincreased efficiencyefficiency ofof surveillancesurveillance colonoscopycolonoscopy „ DecreaseDecrease cost,cost, riskrisk andand overuseoveruse ofof resourcesresources University of Louisville Differences From Prior Postpolypectomy Guidelines 1.1. IdentifyIdentify predictorspredictors ofof subsequentsubsequent advancedadvanced adenomasadenomas andand cancerscancers toto stratifystratify patientspatients intointo lowerlower-- andand higherhigher--riskrisk groupsgroups

2.2. RiskRisk stratificationstratification usedused toto encourageencourage aa shiftshift fromfrom intenseintense surveillancesurveillance toto surveillancesurveillance basedbased onon riskrisk –– freefree upup endoscopicendoscopic resourcesresources forfor screening,screening, diagnosis,diagnosis, andand appropriateappropriate surveillancesurveillance University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Differences From Prior Postpolypectomy Guidelines 3.3. HighHigh--qualityquality baselinebaseline colonoscopycolonoscopy isis emphasizedemphasized

4.4. CompletenessCompleteness ofof polypectomypolypectomy atat baselinebaseline isis emphasizedemphasized –– particularlyparticularly inin thethe settingsetting ofof piecemealpiecemeal removalremoval ofof largelarge sessilesessile polypspolyps University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Differences From Prior Postpolypectomy Guidelines

5.5. FollowFollow--upup surveillancesurveillance ofof hyperplastichyperplastic polypspolyps isis discourageddiscouraged (except(except inin hyperplastichyperplastic polyposis)polyposis)

6.6. TheThe importanceimportance ofof increasingincreasing awarenessawareness ofof hyperplastichyperplastic polyposispolyposis isis discusseddiscussed

7.7. TheThe useuse ofof FOBTFOBT duringduring surveillancesurveillance isis discourageddiscouraged atat present,present, butbut requiresrequires furtherfurther studystudy University(low(low PPV)PPV) of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Differences From Prior Postpolypectomy Guidelines

8.8. FollowFollow--upup intervalsintervals afterafter removalremoval ofof 11 oror 22 smallsmall (<(< 11 cm)cm) adenomasadenomas havehave beenbeen lengthenedlengthened (5(5––1010 yearsyears oror averageaverage--riskrisk screeningscreening options)options)

9.9. EvolvingEvolving technologiestechnologies suchsuch asas chromoendoscopy,chromoendoscopy, magnificationmagnification endoscopy,endoscopy, andand CTCT colonographycolonography (virtual(virtual colonoscopy)colonoscopy) areare notnot yetyet establishedestablished asas surveillancesurveillance modalitiesmodalities University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Guideline endorsed by:

„ ColorectalColorectal CancerCancer AdvisoryAdvisory CommitteeCommittee ofof thethe AmericanAmerican CancerCancer SocietySociety „ AmericanAmerican CollegeCollege ofof GastroenterologyGastroenterology „ AmericanAmerican GastroenterologicalGastroenterological AssociationAssociation „ AmericanAmerican SocietySociety forfor GastrointestinalGastrointestinal EndoscopyEndoscopy University of Louisville Literature reviewed

„ ColonoscopyColonoscopy studiesstudies addressingaddressing relationshiprelationship betweenbetween baselinebaseline findingsfindings andand detectiondetection ofof advancedadvanced adenomaadenoma duringduring followfollow upup

„ SigmoidoscopySigmoidoscopy studiesstudies withwith largelarge cohortscohorts andand followfollow--upup periodsperiods longerlonger thanthan 1010 yrsyrs addressingaddressing thethe relationshiprelationship betweenbetween baselinebaseline findingsfindings andand detectiondetection ofof advancedadvanced adenomasadenomas atat followfollow upup University„ 1515 studiesstudies werewere identifiedidentified of Louisville Advanced Adenoma (AA)

„ SizedSized 1.01.0 cmcm oror largerlarger OROR „ AnyAny villousvillous componentcomponent (nontubular)(nontubular) OROR „ HighHigh gradegrade dysplasiadysplasia OROR „ InvasiveInvasive cancercancer „ SurrogateSurrogate biologicalbiological indicatorindicator ofof cancercancer riskrisk University of Louisville High-quality colonoscopy

„ ReachesReaches cecumcecum „ LittleLittle fecalfecal residueresidue (good(good prep)prep) „ MinimumMinimum timetime ofof withdrawalwithdrawal fromfrom thethe cecumcecum ofof 66--1010 minutesminutes „ MeticulousMeticulous removalremoval ofof largelarge sessilesessile polypspolyps –– particularlyparticularly ifif piecemealpiecemeal polypectomypolypectomy usedused (repeat(repeat examexam ifif needed)needed) „ CriticalCritical forfor effectivelyeffectively reducingreducing coloncolon cancercancer riskrisk andand planningplanning appropriateappropriate Universitysurveillancesurveillance intervalsintervals of Louisville Predictors of Subsequent Advanced Adenomas

„ MultiplicityMultiplicity „ SizeSize „ HistologyHistology „ LocationLocation „ OtherOther riskrisk factorsfactors –– age,age, sex,sex, historyhistory ofof polyps,polyps, familyfamily historyhistory ofof CRCCRC University of Louisville Multiplicity

„ IncreasedIncreased numbernumber ofof adenomasadenomas atat baselinebaseline hashas beenbeen shownshown toto predictpredict subsequentsubsequent detectiondetection ofof advancedadvanced adenomaadenoma „ NationalNational PolypPolyp StudyStudy (RCT)(RCT) „ EuropeanEuropean fiberfiber andand calciumcalcium studystudy (RCT)(RCT) „ WheatWheat branbran studystudy (Martinez(Martinez etet al)al) (RCT)(RCT) „ AtkinAtkin etet alal (observational(observational cohort)cohort) University„ NoshirwaniNoshirwani etet alal (observational(observationalof Louisville cohort)cohort) Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Size

„ LargerLarger adenomaadenoma sizesize waswas relatedrelated toto increasedincreased riskrisk forfor subsequentsubsequent AAAA oror CRCCRC „ WheatWheat branbran studystudy (RCT)(RCT) –– sizesize largerlarger thanthan 11 cmcm usedused „ 44 otherother RCTRCT diddid notnot findfind sizesize toto anan independentindependent predictorpredictor „ 77 outout ofof 88 observationalobservational cohortcohort studiesstudies showedshowed sizesize predictedpredicted futurefuture AAAA oror CRCCRC University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Histology „ Overall,Overall, presencepresence ofof villousvillous componentcomponent and/orand/or highhigh gradegrade dysplasiadysplasia correlatedcorrelated withwith increasedincreased riskrisk ofof AAAA oror CRCCRC „ NoneNone ofof thethe RCTRCT showedshowed histologichistologic typetype ofof adenomaadenoma atat baselinebaseline toto bebe aa significantsignificant predictorpredictor ofof advancedadvanced neoplasianeoplasia „ ButBut severalseveral ofof thethe observationalobservational cohortcohort studiesstudies showedshowed thatthat advancedadvanced histologyhistology conferredconferred increasedincreased riskrisk ofof AAAA University of Louisville Location

„ ProximalProximal adenomaadenoma atat baselinebaseline waswas associatedassociated withwith anan increasedincreased riskrisk forfor subsequentsubsequent AAAA „ SeenSeen inin 22 RCTRCT andand 11 observationalobservational cohortcohort studiesstudies

University of Louisville Other risk factors

„ AgeAge –– 22 RCTRCT showedshowed increasedincreased riskrisk forfor subsequentsubsequent neoplasianeoplasia withwith increasedincreased ageage „ SexSex –– 22 RCTRCT reportedreported anan increasedincreased riskrisk forfor menmen forfor advancedadvanced neoplasianeoplasia „ HistoryHistory ofof polypspolyps –– beforebefore baselinebaseline testtest waswas associatedassociated withwith increasedincreased riskrisk ofof AAAA (2RCT)(2RCT) „ FamilyFamily historyhistory ofof CRCCRC –– inin patientspatients >> 60yrs60yrs ofof ageage predictedpredicted increasedincreased riskrisk forfor AAAA inin Universitythethe NationalNational PolypPolyp of StudyStudy Louisville Postpolypectomy Surveillance Recommendations 1.1. Patients with small rectal hyperplastic polyps should be considered to have normal colonoscopies – subsequent colonoscopy should be 10 years. Exception is patients with a hyperplastic polyposis syndrome who need to be identified for more intensive follow-up evaluation (increased CRC/adenoma risk)

2.2. Patients with only 1 or 2 small (<1 cm) tubular adenomas with only low-grade dysplasia should have their next follow-up colonoscopy in 5–10 years. The precise timing within this interval should be based on other clinical factors (such as prior colonoscopy findings, family history, and the preferences of the patient and judgment of the physician) University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Postpolypectomy Surveillance Recommendations 3.3. PatientsPatients with:with: ¾ 33 toto 1010 adenomas,adenomas, oror ¾ anyany adenomaadenoma ≥≥11 cm,cm, oror ¾ anyany adenomaadenoma withwith villousvillous features,features, oror ¾ highhigh--gradegrade dysplasiadysplasia shouldshould havehave theirtheir nextnext followfollow--upup colonoscopycolonoscopy inin 33 yearsyears providingproviding thatthat piecemealpiecemeal removalremoval hashas notnot beenbeen performedperformed andand thethe adenoma(s)adenoma(s) areare removedremoved completely.completely. IfIf thethe followfollow--upup colonoscopycolonoscopy isis normalnormal oror showsshows onlyonly 11 oror 22 smallsmall tubulartubular adenomasadenomas withwith lowlow-- gradegrade dysplasia,dysplasia, thenthen thethe intervalinterval forfor thethe Universitysubsequentsubsequent examinationexamination of Louisvilleshouldshould bebe 55 yearsyears Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Postpolypectomy Surveillance Recommendations

4.4. PatientsPatients whowho havehave moremore thanthan 1010 adenomasadenomas atat 11 examinationexamination shouldshould bebe examinedexamined atat aa shortershorter (<3(<3 y)y) interval,interval, establishedestablished byby clinicalclinical judgment,judgment, andand thethe clinicianclinician shouldshould considerconsider thethe possibilitypossibility ofof anan underlyingunderlying familialfamilial syndromesyndrome

University of Louisville Postpolypectomy Surveillance Recommendations 5.5. PatientsPatients withwith sessilesessile adenomasadenomas thatthat areare removedremoved piecemealpiecemeal shouldshould bebe consideredconsidered forfor followfollow--upup evaluationevaluation atat shortshort intervalsintervals (2(2––66 mo)mo) toto verifyverify completecomplete removal.removal. OnceOnce completecomplete removalremoval hashas beenbeen established,established, subsequentsubsequent surveillancesurveillance needsneeds toto bebe individualizedindividualized basedbased onon thethe endoscopistendoscopist’’ss judgment;judgment; completenesscompleteness ofof removalremoval shouldshould bebe basedbased onon bothboth endoscopicendoscopic andand pathologicpathologic assessmentsassessments

6.6. MoreMore intensiveintensive surveillancesurveillance isis indicatedindicated whenwhen Universitythethe familyfamily historyhistory maymayof indicateindicateLouisville HNPCCHNPCC Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Additional Surveillance Considerations 1.1. RecommendationsRecommendations assumeassume thatthat colonoscopycolonoscopy isis completecomplete toto thethe cecumcecum andand thatthat bowelbowel preparationpreparation isis adequate.adequate. RepeatRepeat examinationexamination ifif thethe bowelbowel preparationpreparation isis notnot adequateadequate beforebefore planningplanning aa longlong--termterm surveillancesurveillance programprogram

2.2. ThereThere isis clearclear evidenceevidence thatthat thethe qualityquality ofof examinationsexaminations isis highlyhighly variable;variable; continuouscontinuous qualityquality improvementimprovement processprocess isis criticalcritical toto thethe effectiveeffective applicationapplication ofof colonoscopycolonoscopy inin Universitycolorectalcolorectal cancercancer preventionpreventionof Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Additional Surveillance Considerations

3.3. AA repeatrepeat examinationexamination isis warrantedwarranted ifif therethere isis aa concernconcern thatthat thethe polyppolyp waswas removedremoved incompletely,incompletely, particularlyparticularly ifif itit showsshows highhigh--gradegrade dysplasiadysplasia

4.4. EndoscopistsEndoscopists shouldshould makemake clearclear recommendationsrecommendations toto primaryprimary carecare physiciansphysicians aboutabout whenwhen thethe nextnext colonoscopycolonoscopy isis indicatedindicated University of Louisville Additional Surveillance Considerations 5.5. GivenGiven thethe evolvingevolving naturenature ofof guidelines,guidelines, itit isis importantimportant thatthat physiciansphysicians andand patientspatients shouldshould remainremain inin contactcontact soso thatthat surveillancesurveillance recommendationsrecommendations reflectreflect changeschanges inin guidelinesguidelines

6.6. PendingPending furtherfurther investigation,investigation, performanceperformance ofof FOBTFOBT isis discourageddiscouraged inin patientspatients undergoingundergoing colonoscopiccolonoscopic surveillancesurveillance (low(low PPV)PPV)

7.7. DiscontinuationDiscontinuation ofof surveillancesurveillance colonoscopycolonoscopy shouldshould bebe consideredconsidered inin patientspatients withwith seriousserious comorbiditiescomorbidities withwith lessless thanthan 1010 yearsyears ofof lifelife expectancy,expectancy, accordingaccording toto thethe clinicianclinician’’ss Universityjudgmentjudgment of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Additional Surveillance Considerations

8.8. SurveillanceSurveillance guidelinesguidelines areare intendedintended forfor asymptomaticasymptomatic people;people; newnew symptomssymptoms maymay needneed diagnosticdiagnostic workwork--upup

9.9. TheThe applicationapplication ofof evolvingevolving technologiestechnologies suchsuch asas chromoendoscopy,chromoendoscopy, magnificationmagnification endoscopy,endoscopy, narrownarrow bandband imaging,imaging, andand computedcomputed tomographytomography colonographycolonography areare notnot establishedestablished forfor postpolypectomypostpolypectomy surveillancesurveillance atat thisthis timetime University of Louisville Serrated Adenoma

„ HyperplasticHyperplastic polyppolyp withwith dysplasiadysplasia „ LinkedLinked toto ‘‘sporadicsporadic microsatellitemicrosatellite instabilityinstability adenocarcinomaadenocarcinoma’’ –– acquiredacquired mismatchmismatch repairrepair deficiencydeficiency „ OftenOften largelarge andand sessilesessile „ UsuallyUsually locatedlocated proximallyproximally „ OtherOther termsterms –– sessilesessile serratedserrated adenomaadenoma oror serratedserrated polyppolyp withwith abnormalabnormal proliferationproliferation University of Louisville Syndrome of Hyperplastic Polyposis

„ AtAt leastleast 55 histologicallyhistologically diagnoseddiagnosed hyperplastichyperplastic polypspolyps proximalproximal toto thethe sigmoidsigmoid coloncolon ofof whichwhich 22 areare greatergreater thanthan 11 cmcm OROR

„ AnyAny numbernumber ofof hyperplastichyperplastic polypspolyps proximalproximal toto thethe sigmoidsigmoid inin aa patientpatient withwith aa 11st degreedegree relativerelative withwith hyperplastichyperplastic polyposispolyposis OROR

„ MoreMore thanthan 3030 hyperplastichyperplastic polyppolyp ofof anyany sizesize Universitydistributeddistributed throughoutthroughout of thetheLouisville coloncolon Syndrome of Hyperplastic Polyposis

„ IncreasedIncreased riskrisk forfor colorectalcolorectal cancercancer „ MagnitudeMagnitude ofof increasedincreased riskrisk notnot yetyet determineddetermined „ OptimalOptimal managementmanagement ofof hyperplastichyperplastic polyposispolyposis hashas notnot yetyet beenbeen defineddefined andand requiresrequires furtherfurther studystudy University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 )

Guidelines for Colonoscopy Surveillance After Cancer Resection: A Consensus Update by the American Cancer Society and the US Multi-Society Task Force on Colorectal Cancer

Rex DK, Kahi CJ, Levin B, Smith RA, Bond JH, Brooks D, Burt RW, Byers T, Fletcher RH, Hyman N, Johnson D, Kirk L, Lieberman DA, Levin TR, O’Brien MJ, Simmang C, Thorson AG, Winawer SJ University of Louisville Candidates for Surveillance

„ AfterAfter surgicalsurgical resectionresection ofof StageStage I,I, II,II, IIIIII coloncolon andand rectalrectal cancercancer „ AfterAfter curativecurative--intentintent resectionresection ofof StageStage IVIV cancerscancers „ AfterAfter endoscopicendoscopic resectionresection ofof StageStage II „ UnresectableUnresectable cancercancer –– generallygenerally notnot candidatescandidates forfor surveillancesurveillance University of Louisville Goals of Postcancer Resection Surveillance „ DetectionDetection ofof metachronousmetachronous neoplasmneoplasm –– mainmain goalgoal inin coloncolon CACA „ DetectionDetection ofof recurrencerecurrence ofof primaryprimary coloncolon cancercancer tumortumor (anastamotic(anastamotic recurrence)recurrence) byby annualannual oror moremore frequentfrequent CC--scopescope doesdoes notnot conferconfer anyany survivalsurvival benefitbenefit inin RCTRCT oror metameta-- analysesanalyses „ DueDue toto highhigh ratesrates ofof locallocal recurrencerecurrence surveillancesurveillance toto preventprevent anastamoticanastamotic Universityrecurrencerecurrence inin rectalrectal of cancercancer Louisville isis indicatedindicated Differences Between This Guideline and Previous Guidelines on Postcancer Resection Surveillance Colonoscopy

„ InIn additionaddition toto carefulcareful perioperativeperioperative clearingclearing ofof thethe colorectumcolorectum forfor synchronoussynchronous lesions,lesions, aa colonoscopycolonoscopy isis recommendedrecommended 11 yearyear afterafter surgicalsurgical resectionresection becausebecause ofof highhigh yieldsyields ofof detectingdetecting earlyearly second,second, apparentlyapparently metachronousmetachronous cancerscancers

„ CliniciansClinicians cancan considerconsider periodicperiodic examinationexamination ofof thethe rectumrectum forfor thethe purposepurpose ofof identifyingidentifying locallocal recurrencerecurrence afterafter lowlow anterioranterior resectionresection ofof rectalrectal Universitycancercancer of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Postcancer Resection Surveillance Recommendations 1.1. Patients with colon and rectal cancer should undergo high-quality perioperative clearing.

¾ In the case of nonobstructing tumors, this can be done by preoperative colonoscopy. ¾ In the case of obstructing colon cancers, CT colonography with intravenous contrast or double- contrast barium enema can be used to detect neoplasms in the proximal colon. ¾ In obstructed cases, a colonoscopy to clear the colon of synchronous disease should be considered 3 to 6 months after the resection if no unresectable metastases are found during surgery. Alternatively, colonoscopy can be performed intraoperatively University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Postcancer Resection Surveillance Recommendations

2.2. Patients undergoing curative resection for colon or rectal cancer should undergo a colonoscopy 1 year after the resection (or 1 year following the performance of the colonoscopy that was performed to clear the colon of synchronous disease). This colonoscopy at 1 year is in addition to the perioperative colonoscopy for synchronous tumors.

3.3. If the examination performed at 1 year is normal, then the interval before the next subsequent examination should be 3 years. If that colonoscopy is normal, then the interval before the next subsequent examination should be 5 years. University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Postcancer Resection Surveillance Recommendations

4.4. Following the examination at 1 year, the intervals before subsequent examinations may be shortened if there is evidence of HNPCC or if adenoma findings warrant earlier colonoscopy

5.5. Periodic examination of the rectum for the purpose of identifying local recurrence, usually performed at 3- to 6-month intervals for the first 2 or 3 years, may be considered after low anterior resection of rectal cancer. (The techniques utilized are typically rigid proctoscopy, flexible proctoscopy, or rectal endoscopic ultrasound. These examinations are independent of the colonoscopic examinations described above for detection of metachronous disease). Universitymetachronous disease). of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Additional Recommendations Regarding Postcancer Resection Surveillance Colonoscopy 1.1.RecommendationsRecommendations assumeassume thatthat colonoscopycolonoscopy isis completecomplete toto thethe cecumcecum andand thatthat bowelbowel preparationpreparation isis adequateadequate

2.2.ContinuousContinuous qualityquality improvementimprovement processprocess isis criticalcritical

3.3.EndoscopistsEndoscopists shouldshould makemake clearclear recommendationsrecommendations toto primaryprimary carecare physiciansphysicians aboutabout whenwhen thethe nextnext colonoscopycolonoscopy isis indicatedindicated

4.4.PerformancePerformance ofof fecalfecal occultoccult bloodblood texttext isis Universitydiscourageddiscouraged of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Additional Recommendations Regarding Postcancer Resection Surveillance Colonoscopy

5.5. Discontinuation of surveillance colonoscopy should be considered in persons with advanced age or comorbidities (<10 years life expectancy), according to the clinician’s judgment

6.6. Surveillance guidelines are intended for asymptomatic people

7.7. Chromoendoscopy (dye-spraying) and magnification endoscopy are not established as essential to screening or surveillance

8.8. CT colonography (virtual colonoscopy) is not Universityestablished as a surveillance of modalityLouisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1865-1871 ) Familial Colon Cancer Syndromes

„ HereditaryHereditary nonpolyposisnonpolyposis colorectalcolorectal cancercancer (HNPCC)(HNPCC) „ FamilialFamilial adenomatousadenomatous polyposispolyposis (FAP)(FAP) „ AttenuatedAttenuated familialfamilial adenomatousadenomatous polyposispolyposis (AFAP)(AFAP) „ MYHMYH associatedassociated adenomatousadenomatous polyposispolyposis (MAP)(MAP) „ PeutzPeutz--JeghersJeghers syndromesyndrome University„ FamilialFamilial JuvenileJuvenile polyposispolyposisof Louisville colicoli (FJP)(FJP) HNPCC

„ AutosomalAutosomal dominant,dominant, 80%80% penetrancepenetrance „ AccountsAccounts forfor 1%1% -- 5%5% ofof allall CRCCRC casescases „ CausedCaused byby germgerm--lineline mutationmutation inin 11 ofof 66 mismatchmismatch repairrepair genesgenes (hMSH2,(hMSH2, hMLH1,hMLH1, hPMS1,hPMS1, hPMS2,hPMS2, hMSH6hMSH6 andand hMLH3)hMLH3) „ MeanMean ageage forfor CRCCRC developmentdevelopment isis 4444 withwith somesome patientspatients presentingpresenting inin theirtheir 20s20s „ PredominantlyPredominantly rightright coloncolon involvementinvolvement University„ TumorsTumors showshow microsatellitemicrosatellite of Louisville instabilityinstability (MSI)(MSI) HNPCC – Lifetime Cancer Risk

„ ColorectalColorectal cancercancer –– 82%82% „ EndometrialEndometrial cancercancer –– 43%43%--60%60% „ OvarianOvarian cancercancer –– 9%9%--12%12% „ GastricGastric cancercancer –– 13%13%--19%19% „ UrinaryUrinary tracttract cancercancer –– 4%4%--10%10% „ RenalRenal cellcell adenoCAadenoCA –– 3.3%3.3% „ BiliaryBiliary tracttract andand gallgall bladderbladder CACA –– 2%2%--18%18% „ CNSCNS (glioblastoma)(glioblastoma) –– 3.7%3.7% „ Small bowel cancer – 1%-4% UniversitySmall bowel cancer of – 1%Louisville-4% HNPCC

„ MuirMuir--TorreTorre syndrome:syndrome: autosomalautosomal dominant,dominant, sebaceoussebaceous glandgland tumorstumors withwith oror withoutwithout keratoacanthomas,keratoacanthomas, visceralvisceral malignanciesmalignancies –– aa subsetsubset ofof thesethese representrepresent aa variantvariant ofof HNPCCHNPCC

„ TurcotTurcot syndrome:syndrome: HNPCCHNPCC withwith CNSCNS tumorstumors (glioblastoma)(glioblastoma) University of Louisville HNPCC

University of Louisville HNPCC - Bethesda Guidelines (For identification of patients with colorectal tumors who should undergo testing for microsatellite instability) B1 - Individuals with cancer in families that meet the Amsterdam Criteria B2 - Individuals with 2 HNPCC-related tumors, including synchronous and metachronous colorectal cancer or associated extracolonic cancer (endometrium, ovarian, gastric, hepatobiliary, or small-bowel cancer or transitional-cell carcinoma of the renal pelvis or ureter) B3 - Individuals with colorectal cancer and a first-degree relative with colorectal cancer or HNPCC-related extracolonic cancer or a colorectal adenoma; one of the cancers diagnosed at age <50 years, and the adenoma diagnosed <40 B4 - Individuals with colorectal cancer or endometrial cancer diagnosed at age <50 years B5 - Individuals with right-sided colorectal cancer with an undifferentiated pattern (solid, cribriform) on histopathology diagnosed at age <50 years (solid or cribriform), defined as poorly differentiated for undifferentiated carcinoma composed of irregular, solid sheets of large eosinophilic cells and containing small gland-like spaces B6 - Individuals with signet-ring-cell type colorectal cancer diagnosed at age <50 years (composed of >50% signet-ring cells) UniversityB7 - Individuals with adenomas diagnosedof Louisville at age <40 years Screening and Surveillance in HNPCC

„ DefiniteDefinite oror potentialpotential genegene carrierscarriers areare screenedscreened byby colonoscopycolonoscopy everyevery 22 yrsyrs beginningbeginning atat ageage 2020--2525 yrsyrs untiluntil ageage 4040 yrsyrs andand thenthen annuallyannually „ PatientsPatients whowho developdevelop advancedadvanced adenomaadenoma andand provenproven genegene carrierscarriers cancan bebe offeredoffered prophylacticprophylactic subtotalsubtotal colectomycolectomy followedfollowed byby annualannual proctoscopyproctoscopy andand polypectomypolypectomy University of Louisville Gastroenterology- 2006 (Vol. 130, Issue 6: 1872-1885) Other Screening/Surveillance in HNPCC (Published Expert Opinion)

„ AnnualAnnual screeningscreening forfor endometrialendometrial andand ovarianovarian cancercancer atat ageage 2525--3030 yrsyrs „ AnnualAnnual UAUA withwith cytologiccytologic examexam atat 2525 forfor increasedincreased riskrisk ofof renal/urinaryrenal/urinary tracttract cancercancer „ DiscussionDiscussion ofof prophylacticprophylactic hysterectomyhysterectomy andand BSOBSO atat ageage 35/end35/end ofof childchild bearingbearing „ AnnualAnnual skinskin surveysurvey „ PeriodicPeriodic upperupper endoscopyendoscopy (( possiblypossibly startingstarting Universityageage 30?)30?) of Louisville FAP „ AutosomalAutosomal dominantdominant „ MutationMutation inin adenomatousadenomatous polyposispolyposis colicoli (APC)(APC) genegene onon chromosomechromosome 55 „ APCAPC –– tumortumor suppressorsuppressor genegene „ 1/10,0001/10,000 toto 1/30,0001/30,000 liverliver birthsbirths „ AccountsAccounts ofof << 1%1% ofof coloncolon cancercancer inin thethe USUS „ DiagnosisDiagnosis –– >> 100100 adenomatousadenomatous colorectalcolorectal polypspolyps „ AlmostAlmost alwaysalways involvesinvolves rectosigmoidrectosigmoid University of Louisville FAP

„ LifetimeLifetime riskrisk ofof coloncolon cancercancer isis 100%100% „ AverageAverage ageage ofof adenomaadenoma appearanceappearance == 1616 yrsyrs „ AverageAverage ageage ofof coloncolon cancercancer == 3939 yrsyrs

University of Louisville FAP

University of Louisville FAP – Extracolonic involvement

„ DuodenalDuodenal ampullaryampullary carcinomacarcinoma „ FollicularFollicular oror papillarypapillary thyroidthyroid cancercancer „ ChildhoodChildhood hepatoblastomahepatoblastoma „ GastricGastric carcinomacarcinoma „ CNSCNS tumorstumors (medulloblastoma)(medulloblastoma) „ GastricGastric fundicfundic glandgland polypspolyps (benign)(benign) „ DuodenalDuodenal polypspolyps (4(4--12%12% cancercancer risk)risk) „ AdenomasAdenomas inin distaldistal smsmallall bowelbowel andand stomachstomach (cancer(cancer riskrisk lowerlower thanthan duodenalduodenal adenomas)adenomas) „ AdenomasAdenomas inin gallgall bladderbladder andand bilebile ductduct University(occasional(occasional adenocarcinoma)adenocarcinoma) of Louisville FAP

„ GardnerGardner’’ss syndrome:syndrome: FAPFAP (same(same APCAPC genegene mutation)mutation) withwith prominentprominent extraintestinalextraintestinal manifestationsmanifestations –– desmoiddesmoid tumors,tumors, sebaceoussebaceous oror epidermoidepidermoid cysts,cysts, lipomas,lipomas, osteomasosteomas (especially(especially mandible),mandible), supernumerarysupernumerary teeth,teeth, gastricgastric polypspolyps andand juvenilejuvenile nasopharyngealnasopharyngeal angiofibromasangiofibromas

„ TurcotTurcot syndrome:syndrome: FAPFAP variantvariant associatedassociated withwith medulloblastomamedulloblastoma University of Louisville FAP – Screening and Surveillance

„ GeneGene carrierscarriers oror atat--riskrisk familyfamily membersmembers –– flexibleflexible sigmoidoscopysigmoidoscopy everyevery 1212 monthsmonths startingstarting withwith ageage 1010--1212 (some(some pediatricpediatric gastroenterologistgastroenterologist areare offeringoffering colonoscopies)colonoscopies)

„ DiscontinueDiscontinue annualannual coloncolon examinationexamination atat ageage 4040 ifif negativenegative tilltill thenthen University of Louisville FAP – ASGE guidelines for screening and surveillance of upper GI tract

„ PatientsPatients withwith FAPFAP shouldshould undergoundergo upperupper endoscopyendoscopy withwith bothboth endend--viewingviewing andand sideside-- viewingviewing instrumentsinstruments „ TheThe optimaloptimal timingtiming ofof initialinitial upperupper endoscopyendoscopy isis unknownunknown –– couldcould bebe performedperformed aroundaround thethe timetime thethe patientpatient isis consideredconsidered forfor colectomycolectomy oror earlyearly inin thethe thirdthird decadedecade ofof lifelife „ IfIf nono adenomasadenomas areare detected,detected, anotheranother examexam shouldshould bebe performedperformed inin fivefive yearsyears becausebecause adenomatousadenomatous changechange maymay occuroccur laterlater inin thethe coursecourse ofof thethe diseasedisease University of Louisville FAP – ASGE guidelines for screening and surveillance of upper GI tract

„ ForFor patientspatients withwith duodenalduodenal andand periampullaryperiampullary adenomasadenomas –– surveillancesurveillance endoscopyendoscopy andand biopsybiopsy shouldshould bebe performedperformed atat intervalsintervals basedbased onon stagestage ofof diseasedisease „ EndoscopicEndoscopic treatmenttreatment ofof papillarypapillary adenomasadenomas maymay bebe appropriateappropriate inin selectedselected patientspatients „ IfIf excisionexcision isis complete,complete, oneone approachapproach isis forfor followfollow--upup endoscopyendoscopy andand multiplemultiple biopsiesbiopsies everyevery sixsix monthsmonths forfor aa minimumminimum ofof twotwo years,years, withwith endoscopyendoscopy thereafterthereafter atat threethree--yearyear intervalsintervals University of Louisville FAP – ASGE guidelines for screening and surveillance of upper GI tract

„ DuodenalDuodenal polypspolyps shouldshould bebe biopsiedbiopsied oror sampledsampled atat thethe timetime ofof initialinitial discoverydiscovery andand onon eacheach subsequentsubsequent examinationexamination toto determinedetermine thethe stagestage ofof duodenalduodenal polyposispolyposis

„ TheThe frequencyfrequency ofof examsexams andand referralreferral forfor prophylacticprophylactic surgerysurgery areare determineddetermined onon thethe Universitybasisbasis ofof duodenalduodenal ofpolyppolyp Louisville stagestage FAP – ASGE guidelines for screening and surveillance of upper GI tract

University of Louisville FAP – ASGE guidelines for screening and surveillance of upper GI tract

„ SurgicalSurgical consultationconsultation –– forfor advancedadvanced (Spigelman(Spigelman stagestage IV)IV) duodenalduodenal polyposispolyposis inin anan efforteffort toto preventprevent periampullary/duodenalperiampullary/duodenal carcinoma.carcinoma.

„ ManagementManagement ofof highhigh--gradegrade dysplasiadysplasia inin thethe periampullaryperiampullary regionregion isis controversialcontroversial andand mustmust bebe individualizedindividualized (surgery/ablative(surgery/ablative Universitytherapytherapy versusversus moremore of frequentfrequent Louisville surveillance)surveillance) FAP – ASGE guidelines for screening and surveillance of upper GI tract

„ GastricGastric polypspolyps –– biopsybiopsy toto confirmconfirm thatthat theythey areare fundicfundic glandgland polypspolyps andand toto assessassess forfor dysplasia.dysplasia.

„ AntralAntral polypspolyps -- usuallyusually adenomas,adenomas, shouldshould bebe resected.resected. University of Louisville Attenuated FAP

„ HaveHave fewerfewer coloniccolonic adenomasadenomas (20(20--100)100) „ AverageAverage ageage ofof adenomaadenoma appearanceappearance == 4444 yrsyrs „ AverageAverage ageage ofof coloncolon cancercancer == 5656 yrsyrs „ FrequentFrequent involvementinvolvement ofof proximalproximal coloncolon „ InfrequentInfrequent involvementinvolvement ofof rectumrectum „ LifetimeLifetime riskrisk ofof coloncolon cancercancer isis 69%69% „ MutationsMutations inin APCAPC genegene areare closeclose toto 55--primeprime Universityendend oror 33--primeprime endend of ofof thetheLouisville genegene Attenuated FAP – Screening and Surveillance

„ AnnualAnnual colonoscopycolonoscopy inin thethe latelate teensteens oror earlyearly 20s20s –– dependingdepending ageage ofof polyppolyp expressionexpression inin familyfamily

„ ContinueContinue surveillancesurveillance longerlonger thanthan FAPFAP

„ UpperUpper endoscopyendoscopy screeningscreening andand Universitysurveillancesurveillance likelike FAPFAPof Louisville MAP (MYH associated polyposis)

„ AutosomalAutosomal recessiverecessive „ BiallelicBiallelic mutationsmutations inin MYHMYH genegene „ MYHMYH genegene isis involvedinvolved inin basebase excisionexcision repairrepair „ PhenotypePhenotype likelike FAP/AFAPFAP/AFAP –– 1515 toto >100>100 coloniccolonic polypspolyps University of Louisville MAP (MYH associated polyposis) – Extracolonic manifestations

„ GastroduodenalGastroduodenal polypspolyps „ DuodenalDuodenal carcinomacarcinoma „ OsteomasOsteomas „ BreastBreast cancercancer inin femalefemale carrierscarriers „ CongenitalCongenital hypertrophyhypertrophy ofof thethe retinalretinal pigmentpigment epitheliumepithelium (CHERPE)(CHERPE) „ DentalDental cystscysts „ SebaceousSebaceous glandgland tumorstumors University of Louisville MAP (MYH associated polyposis) – Extracolonic manifestations

„ NoNo currentcurrent guidelinesguidelines forfor screening/surveillancescreening/surveillance „ SomeSome expertsexperts recommendrecommend CC--scopescope startingstarting atat 1818 yrsyrs „ OtherOther recommendrecommend bothboth upperupper andand lowerlower endoscopyendoscopy startingstarting atat 2525--3030 yrsyrs University of Louisville Peutz-Jeghers Syndrome

„ AutosomalAutosomal dominantdominant „ GermGerm lineline mutationmutation ofof aa genegene onon chromosomechromosome 1919 „ GeneGene encodesencodes aa serineserine threoninethreonine kinasekinase „ PigmentedPigmented spotsspots onon lipslips andand buccalbuccal mucosamucosa „ MultipleMultiple gastrointestinalgastrointestinal hamartomatoushamartomatous polypspolyps (small(small bowelbowel –– 6565--95%,95%, coloncolon –– 60%,60%, stomachstomach –– 50%)50%) „ GIGI cancercancer riskrisk isis viavia adenomatousadenomatous changechange Universitywithinwithin hamartomahamartoma of Louisville Peutz-Jeghers Syndrome

University of Louisville Peutz-Jeghers Syndrome – Lifetime Cancer Risk

„ StomachStomach –– 29%29% „ SmallSmall intestineintestine –– 13%13% „ ColonColon –– 39%39% „ PancreasPancreas –– 36%36% „ BreastBreast –– 54%54% „ EsophagusEsophagus –– 0.5%0.5% „ LungLung –– 15%15% „ UterusUterus –– 9%9% „ OvaryOvary --21%21% University of Louisville Peutz-Jeghers Syndrome – Surveillance „ FromFrom birthbirth toto ageage 12:12: MaleMale patientspatients:: HH && PP withwith attentionattention toto thethe testicles.testicles. RoutineRoutine bloodblood teststests annuallyannually (optional(optional -- ultrasoundultrasound ofof thethe testiclestesticles everyevery twotwo yearsyears untiluntil ageage 12).12). FemaleFemale patientspatients:: HH && PP withwith routineroutine bloodblood teststests annuallyannually

„ AtAt ageage 8:8: MalesMales andand femalesfemales:: UpperUpper endoscopyendoscopy andand smallsmall bowelbowel series;series; ifif Universitypositive,positive, continuecontinue everyevery of twotwo Louisville toto threethree yearsyears Clinical Gastroenterology and Hepatology 2006; 4:408 Peutz-Jeghers Syndrome – Surveillance

„ From age 18: Male patients: colonoscopy, upper endoscopy, and small bowel series every two to three years. Female patients: Colonoscopy, upper endoscopy, and small bowel series every two to three years; breast self-exam monthly. (Future alternatives to small bowel series: wireless capsule endoscopy; push-enteroscopy or double-balloon enteroscopy - therapeutic intervention, but invasive)

„ From age 21: Female patients: pelvic examination with a Papanicolaou Universitysmear annually of Louisville Clinical Gastroenterology and Hepatology 2006; 4:408 Peutz-Jeghers Syndrome – Surveillance „ FromFrom ageage 25:25: MaleMale patientspatients:: EUSEUS ofof thethe pancreaspancreas everyevery oneone toto twotwo yearsyears (CT(CT scanscan and/orand/or CA19CA19--99 offeredoffered asas options):options): FemaleFemale patientspatients:: EUSEUS ofof thethe pancreaspancreas everyevery oneone toto twotwo yearsyears (CT(CT scanscan and/orand/or CACA 1919--99 offeredoffered asas options)options) clinicalclinical breastbreast examexam semiannually;semiannually; mammographymammography annuallyannually (alternative(alternative –– MRI);MRI); transvaginaltransvaginal ultrasoundultrasound andand serumserum CACA--125125 annually.annually. MammographyMammography mightmight beginbegin earlierearlier onon thethe basisbasis ofof Universityearliestearliest ageage ofof onsetonset ininof thethe Louisvillefamilyfamily Clinical Gastroenterology and Hepatology 2006; 4:408 Familial Juvenile Polyposis

„ AutosomalAutosomal dominantdominant „ IncidenceIncidence << 1/100,0001/100,000 „ GermGerm lineline mutationmutation inin genegene onon ChrChr 1818 „ Gene:Gene: SMAD4SMAD4 oror DPC4DPC4 oror MADH4MADH4 „ CytoplasmicCytoplasmic mediatormediator inin TGFTGF--ββ signallingsignalling „ DiagnosisDiagnosis –– >> 1010 juvenilejuvenile polypspolyps withwith historyhistory ofof similarsimilar lesionslesions inin atat leastleast oneone 11st degreedegree relativerelative University„ RiskRisk ofof coloncolon CACA of–– maymay Louisville bebe uptoupto 20%20% Familial Juvenile Polyposis

University of Louisville Familial Juvenile Polyposis – Surveillance and Screening

„ AtAt riskrisk individualsindividuals –– colonoscopycolonoscopy everyevery 11--22 yrsyrs beginningbeginning ageage 1515--1818

„ UpperUpper endoscopyendoscopy /enteroscopy/enteroscopy oror UGIUGI withwith SBFTSBFT everyevery 11--22 yrsyrs beginningbeginning ageage 2525

UniversityGut 2002;of 51 SupplLouisville 5: V21 Inflammatory Bowel Disease

„ NoNo goodgood RCT,RCT, basedbased onon expertexpert opinionopinion „ RecommendationRecommendation applyapply toto bothboth UCUC andand CDCD „ SurveillanceSurveillance colonoscopycolonoscopy everyevery 11--22 yrsyrs beginningbeginning withwith 88--1010 yrsyrs ofof diseasedisease –– biopsiesbiopsies inin 44 quadrantsquadrants atat everyevery 1010 cmcm „ IfIf coexistingcoexisting diagnosesdiagnoses ofof UCUC andand PSCPSC –– startstart surveillancesurveillance immediatelyimmediately „ PatientsPatients withwith HGDHGD oror multifocalmultifocal LGDLGD inin flatflat mucosamucosa –– advisedadvised colectomycolectomy Gastroenterology- 2003 (Vol. 124, Issue 2: 1865-1871 ) and UniversityAmerican Journal of Gastroenterology of - 2004 –LouisvilleUlcerative Colitis Practice Guidelines