1.
LYNCH SYNDROME
COMPANION SLIDE SHOW FOR
POLYPPOLYP.COM VERSION A
©2014 D. RIEGERT-JOHNSON
Douglas Riegert-Johnson MD
Mayo Clinic Florida

2.
© 2014 DOUGLAS RIEGERT-JOHNSON
Colonoscopy for Lynch syndrome
Link to Canadian study of colonoscopy in patients with Lynch syndrome (MSH2)

3.
I nterval between last colonoscopy and 11 colon
cancer diagnoses (years) for female LS patients
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.
7
6
5
4
3
2
1
0
A B C D E F G H I J K

4.
© 2014 DOUGLAS RIEGERT-JOHNSON
Overlooked polyps. Indigo carmine chromoendoscopy 45 year old
female Lynch syndrome patient (MLH1): Ascending colon polyp before injection
with saline.

5.
© 2014 DOUGLAS RIEGERT-JOHNSON
Overlooked polyps. Indigo carmine chromoendoscopy 45 year old
female Lynch syndrome patient (MLH1): Ascending colon polyp after injection
with saline.

6.
50
45
40
35
30
25
20
15
10
5
0
© 2014 DOUGLAS RIEGERT-JOHNSON
Adenoma detection rate varies by
gastroenterologist
A B C D E F G H I J K L M N O P Q R S T
Adenoma Detection Rate (%)
Gastroenterologist
Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy

7.
How do I find a doctor that will do
a good job with my colonoscopy?
Colonoscopy by Dr. A ≠ Colonoscopy by Dr. B
• 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
© 2014 DOUGLAS RIEGERT-JOHNSON

8.
© 2014 DOUGLAS RIEGERT-JOHNSON
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%.

9.
© 2014 DOUGLAS RIEGERT-JOHNSON
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.

10.
Hazard ratio for dieing from colon cancer by MD
adenoma detection rate (ADR)
1.2
1
0.8
0.6
0.4
0.2
0
Lowest 20% ADR 20-40% ADR 40-60% ADR 60-80% ADR Top 20% ADR
Hazard ratio
Adenoma detection rate from lowest to highest
Reference
Colon cancer
deaths
43 35 29 28 12

11.
© 2014 DOUGLAS RIEGERT-JOHNSON
Adenoma detection rate as the bench mark
for colonoscopy quality.

12.
Technique trumps technology.
Adenoma detection rate vary by gastroenterologist
50
45
40
35
30
25
20
15
10
5
0
Technique
A B C D E F G H I J K L M N O P Q R S T
Percentage of colonoscopies were adenoma
was found
Gastroenterologist
Adenoma Detection Rates IU: 2012 Gastrointestinal Endoscopy
© 2014 DOUGLAS RIEGERT-JOHNSON

13.
© 2014 DOUGLAS RIEGERT-JOHNSON
In patients with Lynch syndrome the predominance
of colon polyps and cancers are located in the right
colon.
Appendix
Rectum
 Colon Cancer,  Second Colon Cancer,  precancerous polyp
Järvinen HJ, Gastroenterology 2000.

14.
+
© 2014 DOUGLAS RIEGERT-JOHNSON
The secret colonoscopy
technique in Lynch
syndrome is
Looking.

15.
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

16.
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

17.
© 2014 DOUGLAS RIEGERT-JOHNSON
+ Chromoendoscopy
With Indigo Carmine
• 2 gm indigo carmine in 500 cc sterile water.
• Sprayed through irrigation on withdrawal

18.
© 2014 DOUGLAS RIEGERT-JOHNSON
Overlooked polyps. Indigo carmine chromoendoscopy 45 year old
female Lynch syndrome patient (MLH1): Ascending colon polyp after injection
with saline.

19.
© 2014 DOUGLAS RIEGERT-JOHNSON
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.

20.
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.

21.
THE END