Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)

© 2014 DOUGLAS RIEGERT-JOHNSON

POLYPPOLYP.COMSLIDESHOWVERSION H. SEPT 2014.Polyppolyp.com is a web based tool to assist with polyposis care, education and documentation. The website does not store or collect patient information. No commercial interests are involved.

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Table of ContentsTopic Slide

Vocabulary

Features of FAP in the duodenum

CHPRE

Adrenal adenomas

Osteomas

Treatment of FAP with fish oil

Ileostomy site neoplasia

J pouch polyps

IPAA


VOCABULARY: FAPLetter Word Meaning

F Familial Runs in families

A Adenomatous From the glands lining the surface of the colon. Adenomatous polyps are precancerous.

P Polyposis Many polyps, at least 20 polys in an adult.


VOCABULARY

FAP

Gardner FAP +

CHRPE

aFAP <100

polyps

Attenuated FAP or aFAP= Generally accepted to be FAP with less than 100 adenomas in an adult. Many attenuated FAP patients do not have polyps in the rectum.

Gardner sydrome = FAP or aFAP + extracolonic manifestations such as osteomas, skin cysts, extra teeth (odontogenic cysts), desmoid tumors, and congenital hypertrophy of the retinal pigmented epithelium (CHRPE).


FAP is an inherited disease. It runs from parent to child to grandchild. It does not skip generations.

10 years old. Has osteomas, assumed to have FAP.

28 years oldAlive and well

48 years oldPolyposis

colon removed

50 years oldAlive and well

Each child of a patient with FAP has a 1 in 2 chance of having FAP.

28 years oldPolyposis

colon removed


EXTRAINTESTINAL FEATURES OF FAP

Pigmented spots in the back of the eye. Technically called congenital hypertrophy of the retinal pigmented epithelium (CHRPE).

Dental abnormalities including extra teeth.

Thyroid nodule.


The Skin and FAP• Nearly half of FAP patients will have one or more lipomas, fibromas or

epidermal cysts (general population about 30%).

Oncologist. 2011;16(12):1698-705. doi: 10.1634/theoncologist.2011-0244. Epub 2011 Dec 1.Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

Burger B1, Cattani N, Trueb S, de Lorenzo R, Albertini M, Bontognali E, Itin C, Schaub N, Itin PH, Heinimann K.

LipomaEpidermal cyst


POLYPOSIS GENESThe genes for familial adenomatous polyposis are APC and MYH. The APC gene is located on the long arm of chromosome 5. The MUTYH gene is located on the short arm of chromosome 1. The MUTYH gene is sometimes called the MYH gene.


APCFrommom

APCFromdad

MUTYHFrom dadMUTYH

From mom


Scenario. A negative genetic test does not rule out familial polyposis. • An 18 year old man comes to the clinic with rectal bleeding.

Colonoscopy shows 1000 polyps. Some are removed and sent the pathology department. The pathologist reports back they are adenomas. The patient can trace a history of polyposis back through 4 generations of his family. Genetic testing for polyposis is negative.

• Question: Does he still have FAP even though he has had genetic testing?

• Answer: Yes! The genetic testing that is currently available does not identify a mutation in about 10% of patients have FAP.

• A gene mutation is not need for the diagnosis. For many reasons, not all patients have a detectable APC or MUTYH mutation (could have polymerase proofreading associated polyposis POLE, POLD1). Patients with aFAP have a 50% chance or less of having a detectable APC mutation.


http://www.ncbi.nlm.nih.gov/pubmed/23447401


Some patients with FAP, attenuated (lesser FAP) and Gardner syndrome do not have APC or MUTYH mutations.

FAP

Gardner

aFAP

APC MUTYH mutations


FEATURES OF FAMILIAL POLYPOSIS IN THE DUODENUMDuodenal adenomas

In the area of the papilla (ampulla)

Not associated with the papilla


VIEW OF THE PAPILLA USING AN ENDOSCOPIC CAPBIOPSY OF PAPILLA NOT REQUESTED ROUTINELY

YIELD IS LOW, RISK OF PANCREATITIS


CAP ASSISTED ENDOSCOPY OF THE PAPILLA

Choi J et al. World J Gastroenterology 2013;19: 2037-43. 23599622.

Endoscopic transparent cap. A: Short transparent cap (Olympus distal attachment D-201-10704, outer diameter: 11.35 mm, length from distal end of endoscope: 4 mm; Olympus Tokyo, Japan); B: Long transparent cap (Olympus distal attachment MH-593, outer diameter: 12.9 mm, length from distal end of endoscope: 11 mm; Olympus);

ConventionalShort cap

Long cap

0%20%40%60%80%

100% 0.81 0.981

Percentage of patients were papilla was seen n =120


http://www.ncbi.nlm.nih.gov/pubmed/?term=23599622

DOUDENAL ADENOMA AT THE PAPILLA (AMPULLARY ADENOMA)A male patient 20-30 years old presented to clinic with abdominal pain. One year before the patient had had his colon removed and a J pouch made. He has a family history of polyposis and a genetic test showed he had a mutation in the APC gene.


VIEW OF THE PAPILLA SHOWING WHAT APPEARS TO BE AN ADENOMA


VIEW OF THE PAPILLA SHOWING THE SAME AREA AFTER THE ABNORMAL TISSUE WAS REMOVED AND THE AREA CAUTERIZED. THE BLUE TUBE IS A

STENT GOING IN THE PANCREATIC DUCT TO PREVENT PANCREATITIS.


DUODENAL POLYPOSISSeverity of duodenal polyposis is graded with the Spigelman score. There are 3 steps to using the Spigelman score.

Step 1. Calculate the number of points.

Step 2. Use the number of points to determine the stage.

Step 3. Use the stage to determine the follow up.


Duodenal f/u for FAP is determined by the Spigelman score

Criterion One point Two points Three points

Polyp number 1-4 5-20 >20

Polyp size (mm) 1-4 5-10 >10

Histology Tubular Tubulovillous Villous

Dysplasia Mild Moderate* Severe**

Vasan, Gut, 2008. Bülow, Gut 2004.

*A low degree of dysplasia according to current classification.

**A high degree of dysplasia.

Stage (points) Follow up (yrs)

0 (0) 5

I (1-4) 5

II (5-6) 3

III (7-8) 1-2

IV (9-12) EUS ? surgery

Sttp

Step


Spigelman

stage IV

duodenal

polyposis


EXTRACOLONIC MANIFESTATIONS OF FAPA PRESENTATION FOR WWW.POLYPPOLYP.COMAVAILABLE ON WWW.SLIDESHARE.COMDouglas Riegert-Johnson, MD

Mayo Clinic


Extracolonic manifestations of Familial AdenomatousPolyposis

Extraintestinal(CHRPE)

Intestinal(Doudenum)


Large CHRPE in posterior pole. The Duke Elder Lecture 2001 Eye (2002) 16, 325–346. Things that go bump in the light. The differential diagnosis of posterior uveal melanomas. I G Rennie.


CHRPE (Congenital Hypertrophy Of the Retinal Pigmented Epithelium)

• Hyperpigmented areas in the eyes are common. Not all are CHRPE. Also, not all patients with CHRPE have FAP.

• Best seen with a dilated eye examination.• No malignant transformation has been reported. • CHRPE seen in FAP patients is usually present in both

eyes. They often have a depigmented halo (Berk type A).


CHRPE as paradigm for FAP extra intestinal manifestations

General population


Odds of FAP

Importance of FAP extra colonic features for diagnosis and screening

• SCENERIO 1 – Known adenomatous colon polyp. The presence of extra colonic features can be useful in making the diagnosis.

• SCENRIO 2 – Patient has not had colonoscopy. The feature prompts the evaluation and diagnosis.


CHRPE, osteomas and skin cysts associated with mutations after exon 9

Cell. 1993 Dec 3;75(5):959-68. Restriction of ocular fundus lesions to a specific subgroup of APC mutations in adenomatous polyposis coli patients. Olschwang S1, Tiret A, Laurent-Puig P, Muleris M, Parc R, Thomas G.

Am J Med Genet A. 2006 Feb 1;140(3):200-4.Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts. Bisgaard ML1, Bülow S.

CHRPE coefficient = no small CHRPE + (3 large CHRPE)


Dental abnormalitiesAbnormality FAP General population

Super nummary teeth (extra teeth)

11-27% 0-4%

Impacted teeth (teeth that do not erupt)

4 to 38% Less than 1%

Odontomas (well-defined encapsulated hard tissuegrowths with an odontogenic appearance)

9.4% to 89% 1-4%

J Med Genet. 1995 Jun;32(6):458-64. The dental phenotype in familial adenomatous polyposis: diagnostic application of a weighted scoring system for changes on dental panoramic radiographs. Thakker N1, Davies R, Horner K, Armstrong J, Clancy T, Guy S, Harris R, Sloan P, Evans G. Oral Dis. 2007 Jul;13(4):360-5. Oral and maxillofacial

manifestations of familial adenomatous polyposis. Wijn MA1, Keller JJ, Giardiello FM, Brand HS.

A scoring system has been developed for panoramic x-rays to predict if the patient has FAP (Thakker)


“Part of dental panoramic radiograph of a female familial adenomatous polyposis patient. An impacted 34 as well as odontomas are visible: one distal from 35 and one between

26 and 27.”


The Skin and FAP• Nearly half of FAP patients will have one or more lipomas, fibromas or

epidermal cysts (general population about 30%). Lipomas are the most common skin finding in FAP patients.

Oncologist. 2011;16(12):1698-705. doi: 10.1634/theoncologist.2011-0244. Epub 2011 Dec 1.Prevalence of skin lesions in familial adenomatous polyposis: a marker for presymptomatic diagnosis?

Burger B1, Cattani N, Trueb S, de Lorenzo R, Albertini M, Bontognali E, Itin C, Schaub N, Itin PH, Heinimann K.

Lipoma(Soft, “sub-skin”)Epidermal cyst

(often able to express material)

Fibroma


Osteomas• Osteomas are abnormal growths of bone. They are not

bone cancer and are not know to change into cancer. • About 1 or 2 out of 10 patients with FAP will have an

osteoma.They are more common in women with FAP• Most commonly located on the mandible or maxilla. A few

patients with osteomas will have symptoms from nerve or eye compression.

• More common in patients with CHRPE.

Int J Med Sci. 2012;9(2):137-41. Epub 2012 Jan 7. Oral and maxillofacial considerations in Gardner's Syndrome. Cankaya AB1, Erdem MA, Isler SC, Cifter M, Olgac V, Kasapoglu C, Oral CK.

Familial adenomatous polyposis (FAP): genotype correlation to FAP phenotype with osteomas and sebaceous cysts.Bisgaard ML, Bülow S.Am J Med Genet A. 2006 Feb 1;140(3):200-


Int J Med Sci. 2012;9(2):137-41. Epub 2012 Jan 7. Oral and maxillofacial considerations in Gardner's Syndrome. Cankaya AB1, Erdem MA, Isler SC, Cifter M, Olgac V, Kasapoglu C, Oral CK.

Osteoma on the mandible of a patient with FAP


OSTEOMACASE SCENERIO30-40 year old female patient with familial adenomatous polyposis and arm pain. Radiograph shows osteoma of the left humerus. The osteoma was compressing the radial nerve. Following removal of the osteoma the pain resolved.



Osteoma

Radiograph of the left humerus

ADRENAL ADENOMAThese are growths of the adrenal gland. They occur in about 13 out of 100 patients with FAP. They rarely require removal but do need monitoring.

Smith TG, Clark SK, Katz DE, Reznek RH, Phillips RK. Adrenal masses are associated with familial adenomatous polyposis. Dis Colon Rectum 2000;43:1739–42


The adrenal glandsAlthough the adrenal glands are small, they produce several hormones that affect almost every system in the body. Hormones are substances carried through the bloodstream to Many parts of the body where they regulate various body functions. Hormones produced by the adrenal glands include:

• Aldosterone

• Androgens

• Catecholamines:• Epinephrine (adrenaline),• dopamine, and• Norepinephrine (noradrenaline)

• Cortisol

• Estrogens

You need only about one-half of one adrenal gland for adequate hormone function.


MR scan of the abdomen

MR scan of the abdomen

Liver

Kidney Kidney

Normal right adrenal gland

Left adrenal gland with adenoma


Lung Lung


CT scan of the abdomen

Spleen

Normal right adrenal gland

Left adrenal gland with adenoma


Liver

Front of the abdominal wall.

Spine

Follow up of adrenal adenoma• Often called incidentaloma as they are often found

incidentally when testing it performed for another reason.• Most complete long term data comes from St. Mark’s

hospital (UK)

Adrenal incidentaloma in familial adenomatous polyposis: a long-term follow-up study and schema for management. Will OC, Hansmann A, Phillips RK, Palazzo FF, Meeran K, Marshall M, Clark SK.

Dis Colon Rectum. 2009 Sep;52(9):1637-44.

30 patients with adrenal

adenomas

3 had adrenal gland removal

2 had adrenal cancer


An adrenal gland can be removed laparoscopically through small “key hole” incisions.


Initial management of adrenal incidentaloma

Signs of cancer? Dense (10 HU), calcification

> 3.5 cm or rapid growth

Yes

Refer to specialist

No

Exclude hormone production (see appendix)

Follow up CT MR in one year


Case • 54 year old man with familial polyposis to clinic.• MRI for other reasons shows 20 mm left adrenal

adenoma.• Review of records shows adrenal adenoma present for

since 2006 with it was 16 mm.• In 10 years has increase in size 4 mm.


DESMOID TUMORSAGGRESSIVE FIBROMATOSIS

• From “desmos” meaning band or tendon like.• Tumors of connective tissue.• “Locally malignant” – cause local complications

(obstruction, abscesses) but do not metastasize.• Spontaneous regression seen in 20% or more of

cases.• Risk factors include family history and surgery.


© 2014 Royal College of Pathologists of Australasia. Published by Royal College of Pathologists of Australasia.

Aggressive fibromatosis.Fisher, Cyril; Thway, Khin

Pathology. 46(2):135-140, February 2014.DOI: 10.1097/PAT.0000000000000045

Fig. 1 . This core needle biopsy of typical desmoid fibromatosis illustrates sweeping fascicles of slender spindle cells evenly arranged within a uniform collagenous stroma.


Microscopic view of dermoid tumor


FRONTUmbilicus

BACK

Skin


Desmoid tumors are categorized by their location.

Abdominal wall

Subcutaneous

Intra abdominal

Treatment for desmoid tumor is highly individualized. Treatments include observation, NSAIDs, anti estrogens, surgery, traditional chemotherapy.

ABDOMINAL WALL DESMOID TUMOR30-40 year old female patient with familial polyposis. The patient has a family history of desmoid tumor in her brother and father. Following single incision subtotal colectomy the patent developed an abdominal wall desmoid tumor while taking sulindac and raloxifene.



FRONTUmbilicus

BACK

ABDOMINAL WALL DESMOID TUMORPatient did not opt for surgery. She continued treatment with Sulindac and raloxifene. The patient sought out a specialist center and was enrolled in a trial of the chemotherapeutic drug sorafenib. Follow up six months later shows no change or slight decrease in size of the desmoid tumor.


REGRESSION OF INTRA ABDOMINAL DESMOID TUMOR A male patient with attenuated familial polyposis between the ages of 50 and 60.

Desmoid tumor regressed while treated with sulindac 150 mg by mouth once a day, curcumin and fish oil.


Day 1


Day 1

Desmoid tumor


Day 386


Day 1094


THE THYROID GLAND AND FAP50 FAP patients had thyroid U/S• 7 (21%) patients with different textures in their

thyroids (heterogeneous)• 27 (79%) with thyroid nodules.

• Of the 52 nodules found, 12 (19%) nodules were at least 10 mm (range 2 to 35).


Cribriform – Morular variant of PTC is associated with FAP

Int J Med Sci 2004; 1(1):43-49. doi:10.7150/ijms.1.43

Cribriform-Morular Variant of Papillary Carcinoma: Association with Familial Adenomatous Polyposis - Report of Three Cases and Review of Literature Shylashree Chikkamuniyappa , Jaishree Jagirdar


Thyroid Cancer and FAP• About 5 out of 100 FAP patients will have papillary thyroid

cancer (PTC) on a one time screen (general population less than 1 in 1000).

• Much more common in young female patients than males (17 females:1 male)

• Very few recurrences of PTC in FAP patients and only one death possibly related to FAP-associated PTC.

• No widely accepted recommendations for screening. • DRJ recommends all patients have at least 1 thyroid

ultrasound.

Am J Surg. 2014. Results of a prospective thyroid ultrasound screening program in adenomatous polyposis patients.Steinhagen E1, Hui VW1, Levy RA1, Markowitz AJ2, Fish S3, Wong RJ4, Sood R1, Ochman SM1, Guillem JG5.

Ann Surg. 2014 Jan 2. Screening for Thyroid Cancer in Patients With Familial Adenomatous Polyposis.Cetta F1, Ugolini G, Martellucci J, Gotti G.


Hepatoblastoma in FAP• Most patients with hepatoblastoma do not have FAP

(10%, 5 of 50). • Risk about 1 in 200 (Population risk 1 in 100,000), study

2/470 (0.42%).• Screening would be AFP and U/s every 3 months until the

age of 4. • Screening be offered with caveats

• 1/200 risk• 75% hepatoblastoma patients cured without screening, so screening for

25%

Am J Med Genet. 1992 Aug 1;43(6):1023-5. Risk of hepatoblastoma in familial adenomatous polyposis. Hughes LJ1, Michels VV.Pediatr Blood Cancer. 2006 Nov;47(6):811-8.

Should children at risk for familial adenomatous polyposis be screened for hepatoblastoma and children with apparently sporadic hepatoblastoma be screened for APC germline mutations?Aretz S1, Koch A, Uhlhaas S, Friedl W, Propping P, von Schweinitz D, Pietsch T.


Extracolonic manifestations of Familial AdenomatousPolyposis

Extraintestinal(CHRPE)

Intestinal(Doudenum)


Spigelman

stage IV

duodenal

polyposis


Duodenal polyposis• Almost all FAP patients will have duodenal polyps.• 1/3 of patients will progress to severe disease (Spigelman

stage IV) and require surgery to remove the doudenum.• Median age of stage IV disease is 45 years old.

Ann Surg. 2014 Jun 19. Progression and Management of Duodenal Neoplasia in Familial Adenomatous Polyposis: A Cohort Study.Serrano PE1, Grant RC, Berk TC, Kim D, Al-Ali H, Cohen Z, Pollett A, Riddell R, Silverberg MS, Kortan P, May GR, Gallinger S.


Duodenal f/u for FAP is determined by the Spigelman score

Criterion One point Two points Three points

Polyp number 1-4 5-20 >20

Polyp size (mm) 1-4 5-10 >10

Histology Tubular Tubulovillous Villous

Dysplasia Mild Moderate* Severe**

Vasan, Gut, 2008. Bülow, Gut 2004.

*A low degree of dysplasia according to current classification.

**A high degree of dysplasia.

Stage (points) Follow up (yrs)

0 (0) 5

I (1-4) 5

II (5-6) 3

III (7-8) 1-2

IV (9-12) EUS ? surgery

V Adenocarcinoma

Sttp

Step


Stomach polyps in FAP• Supportive of the diagnosis.• Seen about 50% of patients.


EPA TYPE FISH OIL FOR THE PREVENTION OF POLYPS IN THE RETAINED RECTUM OF FAP PATIENTS

55 FAP patients28 EPA 1000 mg twice a day

27 Placebo

6 months

West N J et al. Gut 2010;59:918-925. 20348368.



EPA is a subtype of fish oil.


West N J et al. Gut 2010;59:918-925. 20348368.

FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED SECTION OF THE RETAINED RECTUM



22 % NET REDUCTION WITH 1 GM EPA BID. TO DECREASE FROM 5 TO 4 POLYPS IN OBSERVED AREA

EPA FISH OIL POLYP PREVENTION EFFECT SIMILAR TO CELECOXIB


Summary slide• Extracolonic features can prompt evaluation for FAP or aid

in the diagnosis.• Two extracolonic features are the major causes of morbidity

and mortality in FAP• Desmoid tumors• Duodenal polyposis

• Referral to specialist centers• All patients with

• Spigelman stage IV duodenal polyposis• Intra abdominal desmoid

• Referral should be considered for• All patients with desmoid tumors

• Fish oil (EPA) has been shown to be effective for FAP in a randomized blinded study.


END


© 2012 Lippincott Williams & Wilkins, Inc. Published by Lippincott Williams & Wilkins, Inc. 2

TABLE 1Mortality of Intra-Abdominal Desmoid Tumors in Patients With Familial Adenomatous Polyposis: A Single Center Review of 154 Patients.Quintini, Cristiano; Ward, Gregory; Shatnawei, Abdullah; Xhaja, Xhileta; Hashimoto, Koji; MD, PhD; Steiger, Ezra; Hammel, Jeffrey; Diago Uso, Teresa; Burke, Carol; Church, James; MBChB, FRACS

Annals of Surgery. 255(3):511-516, March 2012.DOI: 10.1097/SLA.0b013e31824682d4

TABLE 1 . Desmoid Tumor Staging System

© 2012 Lippincott Williams & Wilkins, Inc. Published by Lippincott Williams & Wilkins, Inc. 2

FIGURE 2Mortality of Intra-Abdominal Desmoid Tumors in Patients With Familial Adenomatous Polyposis: A Single Center Review of 154 Patients.Quintini, Cristiano; Ward, Gregory; Shatnawei, Abdullah; Xhaja, Xhileta; Hashimoto, Koji; MD, PhD; Steiger, Ezra; Hammel, Jeffrey; Diago Uso, Teresa; Burke, Carol; Church, James; MBChB, FRACS

Annals of Surgery. 255(3):511-516, March 2012.DOI: 10.1097/SLA.0b013e31824682d4

FIGURE 2 . Desmoid tumor patients. Survival by stage.

ILEOSTOMY SITE NEOPLASIA


PROLAPSING POLYP FROM PATIENT WITH J POUCH


TREATMENT OF FAP WITH FISH OIL


EPA TYPE FISH OIL FOR THE PREVENTION OF POLYPS IN THE RETAINED RECTUM OF FAP PATIENTS

55 FAP patients28 EPA 1000 mg twice a day

27 Placebo

6 months

West N J et al. Gut 2010;59:918-925. 20348368.



West N J et al. Gut 2010;59:918-925. 20348368.

FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED SECTION OF THE RETAINED RECTUM



22 % NET REDUCTION WITH 1 GM EPA BID. TO DECREASE FROM 5 TO 4 POLYPS IN OBSERVED AREA

EPA FISH OIL POLYP PREVENTION EFFECT SIMILAR TO CELECOXIB


POLYP PROLAPSING THROUGH ANUS OF PATIENT WITH J POUCHPatients with FAP who have a J pouch should have a pouchoscopy (endoscopic examination of the pouch) at least every 12 months.


+Adrenal incidental work up

• Exclude hyperfunction by once-off screen:• 1. Check and record BP• 2. History and examination for Phaeo ,• Cushings, or Conns:• - Headache, sweating, palpitations• - Centripetal obesity, striae, bruising• - Occasionally muscle tiredness, polyuria• 3. 24-hour acidified urine collection for free• catecholamines (via GP if necessary)• 4. Blood tests: ACTH, U&E (ACTH to exclude• subclinical Cushings; although lab range 0-80nM,• most normals 30-50. REFER If undetectable)

POLYPPOLYP.COMWeb site tutorial.


Select text from template to add to note

Review note (plan is repeated at top)

Copy to Clipboard and paste to EMR


Guidance in blue.


LYNCH SYNDROME

Lynch syndrome is NOT FAP. Slides are included for the use of genetic professionals.


Colonoscopy for Lynch syndrome

Link to Canadian study of colonoscopy in patients with Lynch syndrome (MSH2)

68 Women with Lynch syndrome (MSH2)

Colonoscopy 1-2 years

28 Colonoscopy on schedule

14% Colon CAAge at Colon Cancer diagnosis 79 years

Median survival 80 years

40 Colonoscopy not on schedule

17% Colon CAAge at Colon cancer diagnosis 57 years

Median survival 63 years





Missed deadlines: 5 colon cancer > 2yr follow up Fast growing (possible miss): 4 colon cancers in the 1 to 2 year interval. Missed polyps: 2 colon cancers in the 1 year interval.

Overlooked polyps. Indigo carmine chromoendoscopy 45 year old female Lynch syndrome patient (MLH1): Ascending colon polyp before

injection with saline.


Overlooked polyps. Indigo carmine chromoendoscopy 45 year old female Lynch syndrome patient (MLH1): Ascending colon polyp after



A B C D E F G H I J K L M N O P Q R S T0

5

10

15

20

25

30

35

40

45

50

Adenoma detection rate varies by gastroen-terologist

Gastroenterologist

Ad

eno

ma

Det

ecti

on

Rat

e (%

)

Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy




http://www.sciencedirect.com/science/article/pii/S0016510713024449

How do I find a doctor that will do a good job with my colonoscopy?

• Does the doctor meet the quality criteria for colonoscopy set by the American College of Gastroenterology?

• “Colonoscopists in clinical practice should measure their individual adenoma detection rates (ADR) in the continuous quality improvement process. One or more adenomas should be detected in at least 25% of men aged >= 50 years and 15% of women aged >=50 years (88,102).”

Link to Am J Gastroenterol 2009;104:739–75

Colonoscopy by Dr. A ≠ Colonoscopy by Dr. B


http://gi.org/guideline/colorectal-cancer-screening/



Adenoma detection rate range amongst GI MDs

• Kaiser Permanente study of 264,972 colonoscopies not specifically for Lynch syndrome performed by 136 doctors

• Lowest overall ADR 7.35%, to highest 52.1%.• Doctors placed in 5 equally sized groups by adenoma

detection rate (20% groups, quintiles)• Lowest 20% group adenoma detection rate 7.35 to 19.05%.• Highest 20% group adenoma detection rate 33.51% to 52.1%.


What does the ADR “mean”:The higher the adenoma detection rate of the MD, the lower the risk of patients dieing from colon cancer: Risk of dieing from colon cancer 60% less if colonoscopy done by MD with an ADR in the top 20% compared to other MDs.

Link to 2014 New England Medicine of Journal article on adenoma detection rate and cancer.


http://www.nejm.org/doi/full/10.1056/NEJMoa1309086



Hazard ratio for dieing from colon cancer by MD adenoma detection rate (ADR)

Lowest 20% ADR

20-40% ADR 40-60% ADR 60-80% ADR Top 20% ADR0

0.2

0.4

0.6

0.8

1

1.2

Adenoma detection rate from lowest to highest

Haz

ard

rat

io

Reference

Colon cancer deaths

43 35 29 28 12

Adenoma detection rate as the bench mark for colonoscopy quality.


A B C D E F G H I J K L M N O P Q R S T0

5

10

15

20

25

30

35

40

45

50

Adenoma detection rate vary by gastroen-terologist

Gastroenterologist

Per

cen

tag

e o

f co

lon

osc

op

ies

wer

e ad

eno

ma

was

fo

un

d

Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy

Technique

Technique trumps technology.




http://www.sciencedirect.com/science/article/pii/S0016510713024449

Colon Cancer, Second Colon Cancer, precancerous polyp

In patients with Lynch syndrome the predominance of colon polyps and cancers are located in the right colon.

Järvinen HJ, Gastroenterology 2000.

Appendix

Rectum


+

The secret colonoscopy technique in Lynch syndrome is

Looking.

Drag picture to placeholder or click icon to add

Drag picture to placeholder or click icon to add


Technologies for increasing Lynch syndrome colonoscopy adenoma detection• Standard imaging is “white light imaging”• Chromoendoscopy

• Uses dye spray to facilitate visualization of fine surface (mucosal)details.

• Other techniques• Narrow banding imaging.

• Selects out a narrow range of white light, that allows fine detection small blood vessels (capillaries) and details of the mucosa.

• One small study showed a possible benefit. Large studies in non Lynch syndrome patients have shown no benefit.

• Autoflourenesce


Chromoendoscopy for Lynch syndrome

• Three studies of chromoendoscopy in Lynch syndrome all support the use of chromoendoscopy. One study showed no difference, but there was only a small number of patients in that study and difference may not have been detectable.

• ChromoLynch • A Dutch multicenter trial began in 2009, of chromoendoscopy is

underway for LS. More than two hundred patients have been enrolled. Results are not available yet.

ChromoLynch


+Chromoendoscopy

• 2 gm indigo carmine in 500 cc sterile water.• Sprayed through irrigation on withdrawal

With Indigo Carmine


Overlooked polyps. Indigo carmine chromoendoscopy 45 year old female Lynch syndrome patient (MLH1): Ascending colon polyp after



Summary: Technique over technology

• Colonoscopy reduces the rate of colon cancer in Lynch syndrome and extends the lifespan of Lynch syndrome patients.

• Adenoma (precancerous polyp) detection rate is the accepted marker of quality for colonoscopy. It is recommended the colonoscopist measure their adenoma detection rate.

• Colonoscopist performing examinations for Lynch syndrome patients should meet the benchmarks set by the ACG.

• For patients with Lynch syndrome, there should be intensive inspection of the right side of the colon and chromoendoscopy should be considered.


D Riegert – Johnson Bio• Douglas Riegert-Johnson lives in Ponte Vedra Beach Florida and works at Mayo

Clinic Florida in Jacksonville. He is an associate professor of medicine and genetics. His family is originally from the Birmingham area of Alabama and he attended the University of Alabama School of Medicine. Dr. Riegert-Johnson then completed a residency and chief residency in medicine and fellowship in gastroenterology at Mayo Clinic Rochester. He also completed a residency in medical genetics at Johns Hopkins. His mentor is Dr. Lisa Boardman at Mayo Clinic Rochester.

• For the past 6 years Dr. Riegert-Johnson has been at Mayo Clinic Florida leading a cancer genetics program. He has been very fortunate to work with a group of truly talented physicians, nurses and genetic counselors. The cancer genetics group has been active in researching many cancer syndromes including familial adenomatous polyposis, Peutz-Jeghers syndrome, Lynch syndrome, Muir-Tore syndrome and Cowden syndrome. Notable projects include working with Dr. Lynch to describe the EPCAM mutation from of Lynch syndrome and the largest study of Cowden syndrome at the time it was published.

• His current project is to develop an open access web based platform for educating and caring for FAP patients called www.polyppolyp.com. Other completed projects include a cancer genetics ebook for www.pubmed.com called www.cancersyndromes.org.

http://www.polyppolyp.com/

http://www.pubmed.com/

http://www.cancersyndromes.org/

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Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)

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Transcript of Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)