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Summar y o f recommendation s fo r colorecta l cance r - screenin g an d surveillanc e i n hig h ris k groups Th e projecte d bene fi
t o f su r veillanc e a t ag e 5 5 year s i n this grou p i s somewha t mor e tangibl e tha n i n younge r ag e groups. Th e proportio n o f peopl e age d 5 5 year s wit h a t leas t one adenom a ha s bee n variousl y reporte d a s 4 e
21% , bu t onl y 2 e
6%
hav e signi fi
can t neoplasia. 227
23 0 23 4 235 Extrapolatin g from contempora r y populatio n incidenc e dat a fo r thi s ag e group an d applyin g a relativ e ris k o f abou t 3 du e t o famil y histo r y , 217
aroun d on e i n 18 0 peopl e wil l harbou r a hig h ris k colorectal neoplasm/cance r a t screening , assumin g a 3-yea r neoplasi a dwell time.
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Colonosc o py Colonoscop y withi n 6 months o f resection onl y i f colon evaluatio n pre-op . incomple t e C T Live r Sca n withi n 2 years post-op . Colonoscop y 5 yearl y until co-morbidit y outweighs 175
Co l onic adenomas
Lo w risk 1- 2 adenomas , both <
1 cm Colonosc o p y 5 year s o r n o surveillanc e Ceas e follo w -u p afte r negative colonoscopy
Intermediat e risk 3
e
4 ad e nomas , O R a t leas t one adenoma
$
1 cm Colonosc o p y 3 year s 3 yearl y unti l2 consec u tiv e negative colonoscopies , the n n o further surveillance
Hig h risk $
5 adenoma s or $
3 wit h a t least one
$
1cm
Colonosc o p y 1 yea r Annua l colonoscop y unti l ou t o f this ris k gr o u p the n interva l colon o scopy a s pe r intermediat e ris k group Piecemea l polyp e ctom y Colonosc o p y o r flexi-sig (dependin g o n poly p location) 3 months d
conside r open surgica l rese c tio n i fi ncomple t e healin g o f polypectom y scar U l cerative co l iti s and Crohn’s
co l itis Lo w risk Extensiv e coliti s wit h n o inflammation o r lef t side d coliti s o r Crohn’ s colitis of
<
50 % colon Pancoloni c dy e spra y wit h targeted biopsy . I f n o dy e spra y the n 2 e
4
rando m biopsie s ever y 1 0 cms. 1 0 yea r s fro m onse t of symptoms
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Intermediat e risk Extensiv e coliti s wit h mil d activ e diseas e or post-inflammator y polyp s o r famil y histor y of colorecta l cance r i n a FDR <
5 0 yrs.
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Hig h risk Extensiv e a t leas t moderat e coliti s o r strict u re i n pas t 5 year s o r dysplasi a i n pas t 5 years (declinin g sur g ery ) o r PS C o r OL T fo r PSC) o r colorecta l cance r i n a FDR <
5 0 yrs.
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CT , Comp u te d tomogra p hy ; LFT’s , live r functio n tes t s ; OLT , ortho p ti c live r transpla n t ; PSC , primar y sc l erosin g cholangitis. Tabl e 3 Summar y o f recommendation s fo r colorecta l cance r screenin g an d surveillanc e i n moderat e ris k famil y groups Mo d erat e ris k famil y histor y categor i es Life-tim e risk o f CR C death (without
surveillance)
{
Screenin g procedure Ag e a t initial scree n (if olde r at pr e sentation ins t igate forthwi t h ) Scree n in g pr o cedur e an d interval Procedures/
yr/30 0 000 Colorecta l cance r i n 3 FD R i n first degre e kins h ip* , none <
5 0 yrs w
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18
Colorecta l cance r i n 2 FD R i n first degre e kins h ip*, mea n age <
6 0 yrs w
1 i n 6 e
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5
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60
Colorecta l cance r i n 2 FDR $
6 0 yrs w
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I f normal d
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Colorecta l cance r i n 1 FDR <
5 0 yrs w
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Al l othe r F H o f colorecta l cancer >
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Inci d en t colorecta l cance r cas e (age 5 0 yrs , o r MM R prediction >
10%),
no t fulfi l lin g Lync h syn d rom e criteria N/ A Tumou r MS I and/o r IH C anal y sis x
I f n o tumou r testin g availabl e consider genetic s referral N/ A Standa r d pos t -o p follow-u p unless Lync h syndrom e (LS ) feature s on tumo u r analysi s o r a mutatio n identified, the n L S surveillanc e applies. 20
*
Affect e d relative s wh o ar e first-degre e relative s o f eac h othe r AN D a t leas t on e i s a firs t degre e relativ e o f th e consul t and . N o affecte d relative <
5 0 year s ol d (otherwis e high-ri s k criteri a would apply) . Co m bination s o f 3 affecte d relative s i na first-degre e kinshi p include : paren t an d aunt/uncl e and/o r grandpare n t ; O R2 siblings/ 1 parent ; OR 2 siblings/1offs p ring . Combination s o f 2 affec t ed relative s i n a firs t degre e kinshi p incl u d e a paren t an d grandparent , or >
2 siblings , or >
2 child r en , o r chil d + sibling . Wher e bo t h paren t s ar e affec t ed , thes e coun t a s bein g withi n th e fi r st-degree kinship.
y
Clinica l Ge n etic s referra l r e commended. z
Centre s ma y var y depe n din g capacit y an d referra l agreem e nts . Ideall y al l suc h case s sho u l d b e fla g ge d syste m aticall y fo r futur e audi t o n a nationa l sc ale.
x
Refe r t o Clinica l genetic s i f IH C los s o r MSI-H. {
Cance r r e searc h U K (http://info.ca n cerresearchuk.or g /cancerstats/ ) an d IS D Scotlan d (http://www.i s dscotland.org/ i sd/183.html ) . Gut
2010;
59
:666
e
690 . doi:10.1136/gu t .2009.179804 Tabl e 4 Summar y o f recommendation s fo r colorecta l cance r screenin g an d surveillanc e i n hig h ris k famil y groups Famil y histor y categories* Lif e -tim e ris k of CR C death (witho u t sur v eillance ) Screenin g procedur e Ag e a t initia l screen Screenin g inter v a l and procedur e Proce d ures/yr/30 0 000 At-ris k HNPC C (fulfils m o difie d Amster d am cr i teria y
, o r unteste d FDR o f prove n mutatio n car r ier) 1 i n 5 (male) 1 i n 1 3 (female) MM R gen e testin g of affecte d rel. Colonoscop y +/ OGD
Colonoscop y fro m age 2 5 yrs. OG D fro m ag e 5 0 yrs 18
e
2 4 month s colonoscopy ( 2 yrl y OG D fro m ag e 5 0 yrs) 50
MM R gen e car r ie r 1 i n 2. 5 (male) 1 i n 6. 5 (female) Colonoscop y +/ OGD
At-ris k FAP (membe r o f FA P fam i l y with n o mutati o n identified) 1 i n 4 AP C gen e testin g of affecte d rel. Colonoscop y o r alternating colonoscopy/fle x sig. Puberty
Flexibl e appr o ac h important makin g allowanc e for variatio n i n maturity Annua l colonosc o p y or alternatin g colon o scopy/ fle x sig . unti l age d 3 0 yrs Thereafte r 3 e
5 yearl y until 6 0 yrs. Procto-colectom y or colectom y i f +’v e . 2
Fu l fil s clinica l FA P cri t eria, o r prove n AP C mutati o n car r ie r optin g fo r deferred sur g ery d
prophylactic
sur g er y normall y stro n gly recomme n ded 1 i n 2 Colonoscop y o r alternating Colonoscopy/fle x sig. OG D wit h forwar d & side-viewin g scope. Usuall y a t diagnos i s Otherwis e puberty. Flexibl e appr o ac h important makin g allowanc e for variatio n i n maturity Recommendatio n for procto-colectom y & pouch/ colectom y befor e ag e 3 0 yrs. Cance r ris k increases dramaticall y age >
3 0 yrs Twic e yrl y co l onoscop y or alternatin g colon o scopy/ fle x sig. 1
FA P pos t col e ctomy an d IRA 1 i n 15 (re c ta l cance r ) Flex . rectoscopy Forwar d & side-view i ng OGD
Afte r surgery OG D fro m ag e 3 0 yrs Annua l fle x rectoscopy 3yrl y forwar d & side-view i ng OGD
3 (dependen t on sur g ica l practi c e) FA P pos t pr o cto-colectomy an d po u ch Neg l igibl e DR E an d pouc h endoscopy Forwar d & side-view i ng OGD
Afte r surgery OG D fro m ag e 3 0 yrs Annua l exam s alternating flex/rigi d pouc h endoscopy 3yrl y forwar d & side-view i ng OGD
3 (dependen t on sur g ica l practi c e) MU T YH-associated poly p osi s (MAP) 1 i n 2 e
2. 5 Geneti c testing Colonoscopy
+/
OGD
Colonoscop y fro m age 2 5 yrs . OG D fro m age 3 0 yrs Mutatio n carrier s should b e counselle d abou t the availabl e limite d evidence Option s includ e prophylactic colectom y an d ileorectal anastomosis ; o r biennial colonoscop y surveillance. 3- 5 yrl y gastro-duodenono- scopy.
4
1 FD R wit h MSI- H colorectal cancer
AND
IH C shows los s o f MSH2 , MSH6 o r PMS 2 expression. MLH 1 los s an d MSI specifi c all y exclude d (MLH1 los s i n elderl y patien t with righ t side d tumou r i s usually somat i c epigeneti c event) 1 i n 5 (male) 1 i n 1 3 (female) (likel y over-esti- mate)
Colonoscopy
+/
OGD
Colonoscop y fro m age 2 5 yrs. OG D fro m ag e 5 0 yrs 2 yrl y colon o scopy (wit h OG D aged >
5 0 yrs) <
5 bu t variable , dependin g on exten t o f us e o f MS I an d IHC tumo u r analysis P e utz-Jegher s Syndrom e 1 i n 6 Geneti c testin g o f affected rel.
Colonoscop y +/ OGD
Colonoscop y fro m age 2 5 yrs. OG D fro m ag e 2 5 yrs Smal l bowe l MRI/ enteroclysis
2 yrl y Colon o scopy Conside r colectomy an d IR A fo r coloni c cancer Smal l Bowe l VC E o r MRI/enter- oclysi s 2 e
4yrly
OG D 2 yrly 3
Juvenil e polyposi s 1 i n 6 Geneti c testin g o f affected rel.
Colonoscop y +/ OGD
Colonoscop y fro m age 1 5 yrs. OG D fro m ag e 2 5 yrs 2 yrl y colonosc o p y and OGD . Ex t en d interva l aged >
3 5 yrs. 3
*
Th e Ams t erda m c r iteri a fo r ide n tifyin g HNP C C are : thre e o r mor e relative s wit h color e cta l cancer ; on e patien t a firs t degre e relativ e o f another ; tw o g eneration s wit h cancer ; an d on e canc e r diagnose d belo w th e ag e o f 5 0 o r othe r HNPCC-relat e d canc e r s e.g . endometrial , ovarian , gastric , uppe r urethelia l an d biliar y tree. y
Clinica l Ge n etic s referra l an d famil y asse s smen t required , i f no t alread y i n plac e o r referr a l wa s no t initiate d b y Clinica l Genetic s . FAP , familia l adenomat o si s polypo s is ; FDR , firs t degre e relativ e (sibling , paren t o r child ) wit h colorecta l cancer ; HNPCC , hered i tar y non-po l ypos i s colorecta l cancer ; IHC , immunohi s tochemistr y of tumou r materia l fro m affec t e d pro b and ; MSI-H , micro-satellit e insta b ility e
hig h (tw o o r mor e MS I marker s sho w instability) ; O G D , oes o phagogastrod u odenoscopy ; VCE , vide o capsule endoscopy.
