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© 2014 DOUGLAS RIEGERT-JOHNSON 
POLYPPOLYP.COM 
SLIDESHOW 
VERSION J. NOV 2014. 
www.polyppolyp.com is a web based tool to...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Table of Contents 
Topic Slide 
Vocabulary 
Features of FAP in the duodenum 
CHPRE 
Adrena...
© 2014 DOUGLAS RIEGERT-JOHNSON 
VOCABULARY: FAP 
Letter Word Meaning 
F Familial Runs in families 
A Adenomatous From the ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
FAP is an inherited disease. It runs from parent to 
child to grandchild. It does not skip...
© 2014 DOUGLAS RIEGERT-JOHNSON 
VOCABULARY 
Attenuated FAP or aFAP= 
Generally accepted to be FAP 
with less than 100 aden...
EXTRAINTESTINAL FEATURES OF FAP 
(GARDNERS) 
Pigmented spots in the back of the 
eye. Technically called congenital 
hyper...
The Skin and FAP (Gardner’s) 
• Nearly half of FAP patients will have one or more lipomas, fibromas or 
epidermal cysts (g...
© 2014 DOUGLAS RIEGERT-JOHNSON 
POLYPOSIS GENES 
The genes for familial adenomatous polyposis are 
APC and MYH. The APC ge...
APC 
From 
mom 
APC 
From 
dad 
MUTYH 
MUTYH From dad 
From mom 
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
Scenario. A negative genetic test does not 
rule out familial polyposis. 
• An 18 year old...
Some patients 
with FAP, 
attenuated 
(lesser FAP) and 
Gardner 
syndrome do not 
have APC or 
MUTYH 
mutations. 
© 2014 D...
© 2014 DOUGLAS RIEGERT-JOHNSON 
FEATURES OF FAMILIAL 
POLYPOSIS IN THE 
DUODENUM 
Duodenal adenomas 
In the area of the pa...
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
VIEW OF THE PAPILLA USING AN ENDOSCOPIC CAP 
BIOPSY OF PAPILLA NOT REQUESTED ROUTINELY 
YI...
© 2014 DOUGLAS RIEGERT-JOHNSON 
CAP ASSISTED ENDOSCOPY OF THE PAPILLA 
Endoscopic transparent cap. A: Short 
transparent c...
© 2014 DOUGLAS RIEGERT-JOHNSON 
DOUDENALADENOMA AT 
THE PAPILLA (AMPULLARY 
ADENOMA) 
A male patient 20-30 years old prese...
© 2014 DOUGLAS RIEGERT-JOHNSON 
VIEW OF THE PAPILLA SHOWING WHAT APPEARS TO BE AN 
ADENOMA
© 2014 DOUGLAS RIEGERT-JOHNSON 
VIEW OF THE PAPILLA SHOWING THE SAME AREA AFTER THE ABNORMAL 
TISSUE WAS REMOVED AND THE A...
© 2014 DOUGLAS RIEGERT-JOHNSON 
DUODENAL POLYPOSIS 
Severity of duodenal polyposis is graded with the Spigelman 
score. Th...
Duodenal f/u for FAP is determined by the Spigelman score 
Criterion One point Two points Three points 
Polyp number 1-4 5...
Spigelman 
stage IV 
duodenal 
polyposis 
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
EXTRACOLONIC 
MANIFESTATIONS OF FAP 
A PRESENTATION FOR WWW.POLYPPOLYP.COM 
AVAILABLE ON W...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Extracolonic 
manifestations of 
Familial 
Adenomatous 
Polyposis 
Extraintestinal 
(CHRPE...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Large CHRPE in posterior pole. The Duke Elder Lecture 2001 Eye (2002) 16, 325–346. Things ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
CHRPE 
(Congenital Hypertrophy Of the Retinal Pigmented Epithelium) 
• Hyperpigmented area...
© 2014 DOUGLAS RIEGERT-JOHNSON 
General 
population 
Feature 
Retinal 
hyperpigmentation 
Specific 
Feature 
CHRPE 
Highly...
Importance of FAP extra colonic features 
for diagnosis and screening 
• SCENERIO 1 – Known 
adenomatous colon polyp. 
The...
© 2014 DOUGLAS RIEGERT-JOHNSON 
CHRPE, osteomas and skin cysts associated with 
mutations after exon 9 
CHRPE coefficient ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Dental abnormalities 
Abnormality FAP General population 
Super nummary teeth 
(extra teet...
© 2014 DOUGLAS RIEGERT-JOHNSON 
“Part of dental panoramic radiograph of a female familial adenomatous polyposis 
patient. ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
“Part of dental panoramic radiograph of a female familial adenomatous polyposis 
patient. ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
The Skin and FAP 
• Nearly half of FAP patients will have one or more lipomas, fibromas or...
Osteomas 
© 2014 DOUGLAS RIEGERT-JOHNSON 
• Osteomas are abnormal growths of bone. They are not 
bone cancer and are not k...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Osteoma on the mandible of a patient with FAP 
Int J Med Sci. 2012;9(2):137-41. Epub 2012 ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
OSTEOMA 
CASE SCENERIO 
30-40 year old female patient with familial 
adenomatous polyposis...
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
Radiograph of the left humerus 
Osteoma
© 2014 DOUGLAS RIEGERT-JOHNSON 
ADRENAL ADENOMA 
These are growths of the adrenal gland. They 
occur in about 13 out of 10...
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
The adrenal glands 
Although the adrenal glands are small, they produce several hormones 
...
MR scan of the abdomen
© 2014 DOUGLAS RIEGERT-JOHNSON 
MR scan of the abdomen 
Lung Lung 
Liver 
Normal right 
adrenal gland 
Left adrenal gland ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
CT scan of the abdomen
© 2014 DOUGLAS RIEGERT-JOHNSON 
Spleen 
Normal right 
adrenal gland 
Left adrenal gland 
with adenoma 
Liver 
Front of the...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Follow up of adrenal adenoma 
• Often called incidentaloma as they are often found 
incide...
© 2014 DOUGLAS RIEGERT-JOHNSON 
An adrenal gland 
can be removed 
laparoscopically 
through small “key 
hole” incisions.
© 2014 DOUGLAS RIEGERT-JOHNSON 
Initial management of adrenal incidentaloma 
Signs of cancer? 
Dense (10 HU), calcificatio...
Case 
© 2014 DOUGLAS RIEGERT-JOHNSON 
• 54 year old man with familial polyposis to clinic. 
• MRI for other reasons shows ...
© 2014 DOUGLAS RIEGERT-JOHNSON 
DESMOID TUMORS 
AGGRESSIVE FIBROMATOSIS 
• From “desmos” meaning band or tendon like. 
• T...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Aggressive fibromatosis. 
Fisher, Cyril; Thway, Khin 
Pathology. 46(2):135-140, February 2...
© 2014 DOUGLAS RIEGERT-JOHNSON 
FRONT 
Umbilicus 
BACK 
Skin
© 2014 DOUGLAS RIEGERT-JOHNSON 
Desmoid tumors are categorized by their location. 
Abdominal wall 
Subcutaneous 
Intra abd...
© 2014 DOUGLAS RIEGERT-JOHNSON 
ABDOMINAL WALL 
DESMOID TUMOR 
30-40 year old female patient with familial 
polyposis. The...
© 2014 DOUGLAS RIEGERT-JOHNSON 
FRONT 
Umbilicus 
BACK
© 2014 DOUGLAS RIEGERT-JOHNSON 
ABDOMINAL WALL 
DESMOID TUMOR 
Patient did not opt for surgery. She continued 
treatment w...
© 2014 DOUGLAS RIEGERT-JOHNSON 
REGRESSION OF 
INTRA ABDOMINAL 
DESMOID TUMOR 
A male patient with attenuated familial pol...
Day 1 
© 2014 DOUGLAS RIEGERT-JOHNSON
Day 1 
© 2014 DOUGLAS RIEGERT-JOHNSON 
Desmoid tumor
Day 386 
© 2014 DOUGLAS RIEGERT-JOHNSON
Day 1094 
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
THE THYROID GLAND 
AND FAP 
50 FAP patients had thyroid U/S 
• 7 (21%) patients with diffe...
© 2014 DOUGLAS RIEGERT-JOHNSON
Cribriform – Morular variant 
of PTC is associated with FAP 
Int J Med Sci 2004; 
1(1):43-49. 
doi:10.7150/ijms.1.43 
Crib...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Thyroid Cancer and FAP 
• About 5 out of 100 FAP patients will have papillary thyroid 
can...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Hepatoblastoma in FAP 
• Most patients with hepatoblastoma do not have FAP 
(10%, 5 of 50)...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Extracolonic 
manifestations of 
Familial 
Adenomatous 
Polyposis 
Extraintestinal 
(CHRPE...
Spigelman 
stage IV 
duodenal 
polyposis 
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
Duodenal polyposis 
• Almost all FAP patients will have duodenal polyps. 
• 1/3 of patient...
Duodenal f/u for FAP is determined by the Spigelman score 
Criterion One point Two points Three points 
Polyp number 1-4 5...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Stomach polyps in FAP 
• Supportive of the diagnosis. 
• Seen about 50% of patients.
© 2014 DOUGLAS RIEGERT-JOHNSON
EPA TYPE FISH OIL FOR THE PREVENTION 
OF POLYPS IN THE RETAINED RECTUM 
OF FAP PATIENTS 
55 FAP patients 
6 months 
28 EPA...
© 2014 DOUGLAS RIEGERT-JOHNSON 
EPA is a subtype of fish oil.
FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED 
SECTION OF THE RETAINED RECTUM 
West N J et al. Gut 2010;59:918-925. 20348...
© 2014 DOUGLAS RIEGERT-JOHNSON 
EPA FISH OIL POLYP PREVENTION EFFECT 
SIMILAR TO CELECOXIB 
22 % NET REDUCTION WITH 1 GM E...
Summary slide 
© 2014 DOUGLAS RIEGERT-JOHNSON 
• Extracolonic features can prompt evaluation for FAP or 
aid in the diagno...
END 
© 2014 DOUGLAS RIEGERT-JOHNSON
TABLE 1 
Mortality of Intra-Abdominal Desmoid Tumors in 
Patients With Familial Adenomatous Polyposis: A Single 
Center Re...
FIGURE 2 
Mortality of Intra-Abdominal Desmoid Tumors in 
Patients With Familial Adenomatous Polyposis: A Single 
Center R...
© 2014 DOUGLAS RIEGERT-JOHNSON 
ILEOSTOMY SITE 
NEOPLASIA
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
PROLAPSING POLYP 
FROM PATIENT WITH J 
POUCH
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON 
TREATMENT OF FAP 
WITH FISH OIL
EPA TYPE FISH OIL FOR THE PREVENTION 
OF POLYPS IN THE RETAINED RECTUM 
OF FAP PATIENTS 
55 FAP patients 
6 months 
28 EPA...
FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED 
SECTION OF THE RETAINED RECTUM 
West N J et al. Gut 2010;59:918-925. 20348...
© 2014 DOUGLAS RIEGERT-JOHNSON 
EPA FISH OIL POLYP PREVENTION EFFECT 
SIMILAR TO CELECOXIB 
22 % NET REDUCTION WITH 1 GM E...
© 2014 DOUGLAS RIEGERT-JOHNSON 
POLYP PROLAPSING 
THROUGH ANUS OF 
PATIENT WITH J POUCH 
Patients with FAP who have a J po...
+ 
Adrenal incidental work up 
• Exclude hyperfunction by once-off screen: 
• 1. Check and record BP 
• 2. History and exa...
POLYPPOLYP.COM 
Web site tutorial. 
© 2014 DOUGLAS RIEGERT-JOHNSON
Select text 
from template 
to add to note 
© 2014 DOUGLAS RIEGERT-JOHNSON 
  Copy to 
Clipboard and 
paste to EMR 
...
© 2014 DOUGLAS RIEGERT-JOHNSON 
Guidance in blue.
© 2014 DOUGLAS RIEGERT-JOHNSON
© 2014 DOUGLAS RIEGERT-JOHNSON
Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)
Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)
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Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)

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A companion slideshow to the polypolyp.com website. The website is designed to assist in polyposis care, education and documentation. (c) 2014 Douglas Riegert-Johnson.

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Companion slideshow for polyppolyp.com (Familial adenomatous polyposis)

  1. 1. © 2014 DOUGLAS RIEGERT-JOHNSON POLYPPOLYP.COM SLIDESHOW VERSION J. NOV 2014. www.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. Google Chrome is recommended as browser. © 2014 Douglas Riegert-Johnson MD.
  2. 2. © 2014 DOUGLAS RIEGERT-JOHNSON Table of Contents Topic 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
  3. 3. © 2014 DOUGLAS RIEGERT-JOHNSON VOCABULARY: FAP Letter 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.
  4. 4. © 2014 DOUGLAS RIEGERT-JOHNSON FAP is an inherited disease. It runs from parent to child to grandchild. It does not skip generations. 50 years old Alive and well 28 years old Polyposis colon removed 10 years old. 48 years old Polyposis colon removed 28 years old Alive and well Has osteomas, assumed to have FAP. Each child of a patient with FAP has a 1 in 2 chance of having FAP.
  5. 5. © 2014 DOUGLAS RIEGERT-JOHNSON VOCABULARY 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).
  6. 6. EXTRAINTESTINAL FEATURES OF FAP (GARDNERS) 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. © 2014 DOUGLAS RIEGERT-JOHNSON
  7. 7. The Skin and FAP (Gardner’s) • Nearly half of FAP patients will have one or more lipomas, fibromas or epidermal cysts (general population about 30%). Lipoma Epidermal cyst © 2014 DOUGLAS RIEGERT-JOHNSON Fibroma
  8. 8. © 2014 DOUGLAS RIEGERT-JOHNSON POLYPOSIS GENES The 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.
  9. 9. APC From mom APC From dad MUTYH MUTYH From dad From mom © 2014 DOUGLAS RIEGERT-JOHNSON
  10. 10. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  11. 11. Some patients with FAP, attenuated (lesser FAP) and Gardner syndrome do not have APC or MUTYH mutations. © 2014 DOUGLAS RIEGERT-JOHNSON
  12. 12. © 2014 DOUGLAS RIEGERT-JOHNSON FEATURES OF FAMILIAL POLYPOSIS IN THE DUODENUM Duodenal adenomas In the area of the papilla (ampulla) Not associated with the papilla
  13. 13. © 2014 DOUGLAS RIEGERT-JOHNSON
  14. 14. © 2014 DOUGLAS RIEGERT-JOHNSON
  15. 15. © 2014 DOUGLAS RIEGERT-JOHNSON VIEW OF THE PAPILLA USING AN ENDOSCOPIC CAP BIOPSY OF PAPILLA NOT REQUESTED ROUTINELY YIELD IS LOW, RISK OF PANCREATITIS
  16. 16. © 2014 DOUGLAS RIEGERT-JOHNSON CAP ASSISTED ENDOSCOPY OF THE PAPILLA 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); Choi J et al. World J Gastroenterology 2013;19: 2037-43. 23599622. Percentage of patients were papilla was seen n =120 100% 80% 60% 40% 20% 0% Conventional Short cap Long cap 0.81 0.98 1
  17. 17. © 2014 DOUGLAS RIEGERT-JOHNSON DOUDENALADENOMA 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.
  18. 18. © 2014 DOUGLAS RIEGERT-JOHNSON VIEW OF THE PAPILLA SHOWING WHAT APPEARS TO BE AN ADENOMA
  19. 19. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  20. 20. © 2014 DOUGLAS RIEGERT-JOHNSON DUODENAL POLYPOSIS Severity 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.
  21. 21. 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** Stage (points) Follow up (yrs) Vasan, Gut, 2008. Bülow, Gut 2004. *A low degree of dysplasia according to current classification. **A high degree of dysplasia. 0 (0) 5 I (1-4) 5 II (5-6) 3 III (7-8) 1-2 IV (9-12) EUS ? surgery S t t p  S t e p  © 2014 DOUGLAS RIEGERT-JOHNSON
  22. 22. Spigelman stage IV duodenal polyposis © 2014 DOUGLAS RIEGERT-JOHNSON
  23. 23. © 2014 DOUGLAS RIEGERT-JOHNSON EXTRACOLONIC MANIFESTATIONS OF FAP A PRESENTATION FOR WWW.POLYPPOLYP.COM AVAILABLE ON WWW.SLIDESHARE.NET Douglas Riegert-Johnson, MD Mayo Clinic
  24. 24. © 2014 DOUGLAS RIEGERT-JOHNSON Extracolonic manifestations of Familial Adenomatous Polyposis Extraintestinal (CHRPE) Intestinal (Doudenum)
  25. 25. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  26. 26. © 2014 DOUGLAS RIEGERT-JOHNSON 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).
  27. 27. © 2014 DOUGLAS RIEGERT-JOHNSON General population Feature Retinal hyperpigmentation Specific Feature CHRPE Highly specific FAP variant of specific feature CHRPE, posterior pole, fish tail shaped hypopigmentati on, bilateral Odds of FAP CHRPE as paradigm for FAP extra intestinal manifestations
  28. 28. 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. © 2014 DOUGLAS RIEGERT-JOHNSON
  29. 29. © 2014 DOUGLAS RIEGERT-JOHNSON CHRPE, osteomas and skin cysts associated with mutations after exon 9 CHRPE coefficient = no small CHRPE + (3 large CHRPE) 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.
  30. 30. © 2014 DOUGLAS RIEGERT-JOHNSON Dental abnormalities Abnormality 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 tissue growths with an odontogenic appearance) 9.4% to 89% 1-4% A scoring system has been developed for panoramic x-rays to predict if the patient has FAP (Thakker) 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.
  31. 31. © 2014 DOUGLAS RIEGERT-JOHNSON “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.”
  32. 32. © 2014 DOUGLAS RIEGERT-JOHNSON “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.”
  33. 33. © 2014 DOUGLAS RIEGERT-JOHNSON 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. Lipoma Epidermal cyst (Soft, “sub-skin”) (often able to express material) 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? Fibroma Burger B1, Cattani N, Trueb S, de Lorenzo R, Albertini M, Bontognali E, Itin C, Schaub N, Itin PH, Heinimann K.
  34. 34. Osteomas © 2014 DOUGLAS RIEGERT-JOHNSON • 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-
  35. 35. © 2014 DOUGLAS RIEGERT-JOHNSON Osteoma on the mandible of a patient with FAP 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.
  36. 36. © 2014 DOUGLAS RIEGERT-JOHNSON OSTEOMA CASE SCENERIO 30-40 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.
  37. 37. © 2014 DOUGLAS RIEGERT-JOHNSON
  38. 38. © 2014 DOUGLAS RIEGERT-JOHNSON Radiograph of the left humerus Osteoma
  39. 39. © 2014 DOUGLAS RIEGERT-JOHNSON ADRENAL ADENOMA These 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
  40. 40. © 2014 DOUGLAS RIEGERT-JOHNSON
  41. 41. © 2014 DOUGLAS RIEGERT-JOHNSON The adrenal glands Although 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.
  42. 42. MR scan of the abdomen
  43. 43. © 2014 DOUGLAS RIEGERT-JOHNSON MR scan of the abdomen Lung Lung Liver Normal right adrenal gland Left adrenal gland with adenoma Kidney Kidney
  44. 44. © 2014 DOUGLAS RIEGERT-JOHNSON CT scan of the abdomen
  45. 45. © 2014 DOUGLAS RIEGERT-JOHNSON Spleen Normal right adrenal gland Left adrenal gland with adenoma Liver Front of the abdominal wall. Spine
  46. 46. © 2014 DOUGLAS RIEGERT-JOHNSON 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) 30 patients with adrenal adenomas 3 had adrenal gland removal 2 had adrenal cancer 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.
  47. 47. © 2014 DOUGLAS RIEGERT-JOHNSON An adrenal gland can be removed laparoscopically through small “key hole” incisions.
  48. 48. © 2014 DOUGLAS RIEGERT-JOHNSON 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
  49. 49. Case © 2014 DOUGLAS RIEGERT-JOHNSON • 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.
  50. 50. © 2014 DOUGLAS RIEGERT-JOHNSON DESMOID TUMORS AGGRESSIVE 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.
  51. 51. © 2014 DOUGLAS RIEGERT-JOHNSON Aggressive fibromatosis. Fisher, Cyril; Thway, Khin Pathology. 46(2):135-140, February 2014. DOI: 10.1097/PAT.0000000000000045 Microscopic view of dermoid tumor Fig. 1 . This core needle biopsy of typical desmoid fibromatosis illustrates sweeping fascicles of slender spindle cells evenly arranged within a uniform collagenous stroma. © 2014 Royal College of Pathologists of Australasia. Published by Royal College of Pathologists of Australasia.
  52. 52. © 2014 DOUGLAS RIEGERT-JOHNSON FRONT Umbilicus BACK Skin
  53. 53. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  54. 54. © 2014 DOUGLAS RIEGERT-JOHNSON ABDOMINAL WALL DESMOID TUMOR 30-40 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.
  55. 55. © 2014 DOUGLAS RIEGERT-JOHNSON FRONT Umbilicus BACK
  56. 56. © 2014 DOUGLAS RIEGERT-JOHNSON ABDOMINAL WALL DESMOID TUMOR Patient 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.
  57. 57. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  58. 58. Day 1 © 2014 DOUGLAS RIEGERT-JOHNSON
  59. 59. Day 1 © 2014 DOUGLAS RIEGERT-JOHNSON Desmoid tumor
  60. 60. Day 386 © 2014 DOUGLAS RIEGERT-JOHNSON
  61. 61. Day 1094 © 2014 DOUGLAS RIEGERT-JOHNSON
  62. 62. © 2014 DOUGLAS RIEGERT-JOHNSON THE THYROID GLAND AND FAP 50 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).
  63. 63. © 2014 DOUGLAS RIEGERT-JOHNSON
  64. 64. 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 © 2014 DOUGLAS RIEGERT-JOHNSON
  65. 65. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  66. 66. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  67. 67. © 2014 DOUGLAS RIEGERT-JOHNSON Extracolonic manifestations of Familial Adenomatous Polyposis Extraintestinal (CHRPE) Intestinal (Doudenum)
  68. 68. Spigelman stage IV duodenal polyposis © 2014 DOUGLAS RIEGERT-JOHNSON
  69. 69. © 2014 DOUGLAS RIEGERT-JOHNSON 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.
  70. 70. 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 S t t p  S t e p  © 2014 DOUGLAS RIEGERT-JOHNSON
  71. 71. © 2014 DOUGLAS RIEGERT-JOHNSON Stomach polyps in FAP • Supportive of the diagnosis. • Seen about 50% of patients.
  72. 72. © 2014 DOUGLAS RIEGERT-JOHNSON
  73. 73. EPA TYPE FISH OIL FOR THE PREVENTION OF POLYPS IN THE RETAINED RECTUM OF FAP PATIENTS 55 FAP patients 6 months 28 EPA 1000 mg twice a day 27 Placebo West N J et al. Gut 2010;59:918-925. 20348368. © 2014 DOUGLAS RIEGERT-JOHNSON
  74. 74. © 2014 DOUGLAS RIEGERT-JOHNSON EPA is a subtype of fish oil.
  75. 75. FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED SECTION OF THE RETAINED RECTUM West N J et al. Gut 2010;59:918-925. 20348368. © 2014 DOUGLAS RIEGERT-JOHNSON
  76. 76. © 2014 DOUGLAS RIEGERT-JOHNSON EPA FISH OIL POLYP PREVENTION EFFECT SIMILAR TO CELECOXIB 22 % NET REDUCTION WITH 1 GM EPA BID.  TO DECREASE FROM 5 TO 4 POLYPS IN OBSERVED AREA
  77. 77. Summary slide © 2014 DOUGLAS RIEGERT-JOHNSON • 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.
  78. 78. END © 2014 DOUGLAS RIEGERT-JOHNSON
  79. 79. TABLE 1 Mortality 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
  80. 80. FIGURE 2 Mortality 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. © 2012 Lippincott Williams & Wilkins, Inc. Published by Lippincott Williams & Wilkins, Inc. 2
  81. 81. © 2014 DOUGLAS RIEGERT-JOHNSON ILEOSTOMY SITE NEOPLASIA
  82. 82. © 2014 DOUGLAS RIEGERT-JOHNSON
  83. 83. © 2014 DOUGLAS RIEGERT-JOHNSON
  84. 84. © 2014 DOUGLAS RIEGERT-JOHNSON PROLAPSING POLYP FROM PATIENT WITH J POUCH
  85. 85. © 2014 DOUGLAS RIEGERT-JOHNSON
  86. 86. © 2014 DOUGLAS RIEGERT-JOHNSON TREATMENT OF FAP WITH FISH OIL
  87. 87. EPA TYPE FISH OIL FOR THE PREVENTION OF POLYPS IN THE RETAINED RECTUM OF FAP PATIENTS 55 FAP patients 6 months 28 EPA 1000 mg twice a day 27 Placebo West N J et al. Gut 2010;59:918-925. 20348368. © 2014 DOUGLAS RIEGERT-JOHNSON
  88. 88. FAP CHEMOPREVENTION STUDIES MONITOR A TATTOOED SECTION OF THE RETAINED RECTUM West N J et al. Gut 2010;59:918-925. 20348368. © 2014 DOUGLAS RIEGERT-JOHNSON
  89. 89. © 2014 DOUGLAS RIEGERT-JOHNSON EPA FISH OIL POLYP PREVENTION EFFECT SIMILAR TO CELECOXIB 22 % NET REDUCTION WITH 1 GM EPA BID.  TO DECREASE FROM 5 TO 4 POLYPS IN OBSERVED AREA
  90. 90. © 2014 DOUGLAS RIEGERT-JOHNSON POLYP PROLAPSING THROUGH ANUS OF PATIENT WITH J POUCH Patients with FAP who have a J pouch should have a pouchoscopy (endoscopic examination of the pouch) at least every 12 months.
  91. 91. + 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)
  92. 92. POLYPPOLYP.COM Web site tutorial. © 2014 DOUGLAS RIEGERT-JOHNSON
  93. 93. Select text from template to add to note © 2014 DOUGLAS RIEGERT-JOHNSON   Copy to Clipboard and paste to EMR  Review note (plan is repeated at top)
  94. 94. © 2014 DOUGLAS RIEGERT-JOHNSON Guidance in blue.
  95. 95. © 2014 DOUGLAS RIEGERT-JOHNSON
  96. 96. © 2014 DOUGLAS RIEGERT-JOHNSON

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