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LYNCH SYNDROME COMPANION SLIDE SHOW FOR POLYPPOLYP.COM VERSION A ©2014 D. RIEGERT-JOHNSON Douglas Riegert-Johnson MD Mayo Clinic Florida

Polyppolyp lynch syndrome version a

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LYNCH SYNDROMECOMPANION SLIDE SHOW FOR POLYPPOLYP.COM VERSION A©2014 D. RIEGERT-JOHNSON

Douglas Riegert-Johnson MD

Mayo Clinic Florida

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Colonoscopy for Lynch syndrome

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

© 2014 DOUGLAS RIEGERT-JOHNSON

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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.

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A B C D E F G H I J K

I nterval between last colonoscopy and 11 colon cancer diagnoses (years) for female LS patients

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Overlooked polyps. Indigo carmine chromoendoscopy 45 year old

female Lynch syndrome patient (MLH1): Ascending colon polyp before injection with saline.

© 2014 DOUGLAS RIEGERT-JOHNSON

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Overlooked polyps. Indigo carmine chromoendoscopy 45 year old

female Lynch syndrome patient (MLH1): Ascending colon polyp after injection with saline.

© 2014 DOUGLAS RIEGERT-JOHNSON

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

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Gastroenterologist

Adenoma detection rate varies by gastroenterologist

Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy

© 2014 DOUGLAS RIEGERT-JOHNSON

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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

© 2014 DOUGLAS RIEGERT-JOHNSON

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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%.

© 2014 DOUGLAS RIEGERT-JOHNSON

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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.

© 2014 DOUGLAS RIEGERT-JOHNSON

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

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Reference

Colon cancer deaths

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Adenoma detection rate as the bench mark for colonoscopy quality.

© 2014 DOUGLAS RIEGERT-JOHNSON

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Adenoma detection rate vary by gastroenterologist

Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy

Technique

Technique trumps technology.

© 2014 DOUGLAS RIEGERT-JOHNSON

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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

© 2014 DOUGLAS RIEGERT-JOHNSON

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+

The secret colonoscopy technique in Lynch syndrome is

Looking.

© 2014 DOUGLAS RIEGERT-JOHNSON

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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

© 2014 DOUGLAS RIEGERT-JOHNSON

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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

© 2014 DOUGLAS RIEGERT-JOHNSON

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+ Chromoendoscopy

• 2 gm indigo carmine in 500 cc sterile water.

• Sprayed through irrigation on withdrawal

With Indigo Carmine

© 2014 DOUGLAS RIEGERT-JOHNSON

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Overlooked polyps. Indigo carmine chromoendoscopy 45 year old

female Lynch syndrome patient (MLH1): Ascending colon polyp after injection with saline.

© 2014 DOUGLAS RIEGERT-JOHNSON

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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.

© 2014 DOUGLAS RIEGERT-JOHNSON

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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.

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