This document contains the medical records of a 39-year-old female patient admitted with a 3-year history of abdominal pain and weakness. Physical examination revealed pallor. Laboratory tests showed anemia and elevated CEA. Imaging found thickening and masses in the colon concerning for cancer. The patient underwent a total proctocolectomy for Familial Adenomatous Polyposis (FAP) with carcinoma of the right colon. Pathology confirmed adenocarcinoma arising in adenomatous polyposis. The patient was discharged and started on chemotherapy due to lymph node involvement.

1. Dr. Ved Prakash Sah
Moderator: Prof. Vikas Gupta

2.  Name: Mrs. RK
 Age/sex: 39 yr/f
 Cr no: 201606368557
 Admission no: 2017030707
 Address: Firozpur, Punjab
 DOA: 02.05.2017
 DOSx: 04.05.2017
 DOD: 12.05.2017

3.  Pain abdomen x 3 years
◦ Insidious onset
◦ Dull aching, mild in intensity
◦ Diffuse whole abdomen
◦ Non-radiating
 Generalised weakness x 3 years
◦ a/w easy fatiguability and palpitation
 LOW and LOA +

4.  No h/o fever
 No h/o jaundice/vomiting
 No h/o abdominal distension/constipation
 No h/o lump abdomen
 No h/o hematemesis, hematochezia and dark colored
stool

5.  No h/o any comorbidities
 Mixed diet
 No addictions
 No h/o blood transfusion

6.  No h/o similar illness in any family members
 No h/o any malignancy in any family members
Family tree

7.  General examination
◦ Pallor +
◦ No icterus / cyanosis / clubbing / generalized lymphadenopathy / pedal
edema
◦ No supraclavicular LAP
 Vitals
◦ PR: 88/min
◦ BP: 110/70mmHg
◦ Afebrile

8.  Scaphoid
 Soft
 No lump palpable
 No Free Fluid
 Bowel sounds +
 PR examination – normal

9. Pre Op 03/5/17 Post Op
05/05/17
Post Op 09/05/17
Hb(g/dL) 10.7 12.7 10.2
TLC 9200 13600 10500
Platelet 405k 241k 281k
Bil(T/C)mg/dL 0.4/0.02 0.7/0.25 0.3/0.1
TP/Alb(g/dL) 5.5/3.1 4.4/2.3 5.3/2.2
OT/PT(U/L) 16/18 23/18 15/20
ALP(U/L) 102 104 106

10.  S. CEA- 39.6 U/ml (Normal range: <4 U/ml)
 IgA tTG- negative

11.  USG Abdomen (01/11/2016)-outside
◦ Concentric bowel wall thickening in hepatic
flexure region (>5 cm)
◦ Multiple (>6) hypoechoic masses , largest
measuring upto 38x41 mm in post parametrium
wall of uterus ?fibroid

12. ◦ Mild thickening of the hepatic flexure and
adjacent transverse colon upto 15 mm.
◦ Mild dilatation of the proximal colon also
noted
◦ Multiple uterine fibroids, largest is
subserosal and is 46 mm in size.

13. ◦ A large proliferative growth obliterating lumen
?proximal ascending colon ?caecum
◦ Rest of the colonic mucosa studded with sessile
polyps of varying size (0.5-1 cm), more in proximal
colon than the distal colon.
 Bx (04/01/2017) S-284/17
◦ Ascending colon- adenoma
◦ Transverse colon and rectosigmoid-
polyadenomatous with high grade dysplasia
◦ Rectum (normal mucosa)- morphological
description

14. ◦Gastric fundus- multiple small polyps +
◦D2- 2 small polyps +
Bx (04/01/17) S-317/17
◦Stomach, fundus- fundic gland polyp
◦Duodenum- mild inflammation

15. FAP with Carcinoma Right Colon (Hepatic
flexure)

16.  Total Proctocolectomy + IPAA + covering
loop ielostomy

17.  No ascites
 No liver/omental/peritoneal deposits
 6x7 cm hard mass in hepatic flexure
 Multiple enlarged paracolic lymphnodes +
(max. 1x1.5 cm)
 Uterus enlarged, multiple fibroid uterus of
variable number and size

21.  Colectomy specimen- Adenocarcinoma,
moderately differentiated arising in
adenomatous polyposis with high grade
dysplasi
 Lymph node (1/18)- involved by the tumor
 Tumor infiltrating muscularis propria and
reaching upto subserosal adipose tissue (T3)
 Lymphovascular invasion absent
 Proximal doughnut- free of tumor
 Distal doughnut- colonic mucosa with
adenomatous polyp with low grade dysplasia

22.  Immediate post op- hemodynamically stable
 RT removed on POD1
 Oral sips started on POD1
 Stoma functional on POD2
 Stoma was healthy with average output 600 ml/day
 PUC out on POD2, self voided
 Drain removed on POD5
 Discharged on POD8

23.  Patient doing well
 Wound healthy
 No fresh complaints
 Stoma healthy & functional
 Stoma output 600-800 ml/day
 PR- normal
 In view of lymph node positivity adjuvant
chemotherapy started (FOLFOX regimen)

24. DISCUSSION

25.  Introduction
 Genetics of FAP
 Pathogenesis of ca colon in FAP
 Indications of surgery
 Postop surveillance
 Chemoprevention
 Genetic testing
 Family screening
 Conclusion

26. Burt RW. Colon cancer screening.
Gastroenterology. 2000 Sep 30;119(3):837-53.

27.  Incidence: 1 in 10000 live births
 M:F=1:1
 Classic FAP is characterised by
1. Multiple colonic adenomatous polyps
(>100)
2. Early age of onset
3. Inevitable development of colon cancer
unless the colon is removed

28.  Inheritance: Autosomal dominant
 Penetrance: 100%
 Family h/o FAP: upto 70%
 De novo mutation: upto 30%
 Genotype: APC gene, TSG, 5q21
 Mutation: Truncated germline mutation

29. Jo WS, Chung DC. Genetics of hereditary colorectal cancer.
InSeminars in oncology 2005 Feb 28 (Vol. 32, No. 1, pp. 11-23).

30. S.No Benign Lesions Malignant lesions
1. Congenital hypertrophy of the
retinal pigment epithelium (70-
80%)
Duodenal tumors (3-5%)
2. Epidermoid cyst (50%) Brain tumors (2%)
(Turcot syndrome)
3. Osteoma (50-90%)
(Gardener syndrome)
Thyroid cancer (2%)
4. Desmoid tumour (10-15%) Pancreatic cancer (1.7%)
5. Supernumery teeth (11-27%) Ampullary carcinoma(1.7%)
6. Adrenal gland adenomas (7-13%) Hepatoblastoma (1.6%)
7. Gastric cancer (0.6%)
Galiatsatos P, Foulkes WD. Familial adenomatous polyposis.
The American journal of gastroenterology. 2006 Feb 1;101(2):385.

31.  Attenuated familial adenomatous polyposis
(AFAP)
◦ Mutations close to the 5’ end of the APC
gene
◦ Autosomal dominant
 MUTYH-Associated Polyposis (MAP)
◦ Caused by mutation in the MutY homolog
(MYH) gene, a base excision repair gene,
1p34
◦ Autosomal recessive

32. Ivanovich JL, Read TE. A practical approach to familial and hereditary colorecta
The American journal of medicine. 1999 Jul 31;107(1):68-77.

33.  Once FAP has been diagnosed, the aim is to
perform prophylactic surgery
 Timing of surgery: late teens to early twenties
 Indications of early surgery
1. Documented or suspected cancer
2. Significant symptoms
3. Polyps >10 mm diameter
4. Polyps with high grade dysplasia
5. Marked increase in polyp number on
consecutive examinations
Syngal S et al. ACG clinical guideline. The American journal
of gastroenterology. 2015 Feb;110(2):223.

34.  Surgical options available
1. Total proctocolectomy with permanent end
ileostomy
2. Total proctocolectomy with continent
ileostomy (Kock)
3. Total colectomy with IRA
 Pros-Superior functional results
 Cons-Leaves the rectum intact
4. Total proctocolectomy with IPAA ± covering
loop ileostomy

35.  Includes:
1. Annual endoscopy of rectum or ileal pouch
2. Examination of an ileostomy every 2 years

36.  The goal is to reduce the appearance of new polyps and
possibly induce regression of existing ones.
 However they don’t prevent cancer.
 These are:
◦ NSAID: Sulindac
◦ Selective COX-2 inhibitor: Celecoxib
◦ Omega-3 PUFA: Eicosapentaenoic acid (EPA)
West N et al: Eicosapentaenoic acid reduces rectal polyp
number and size in familial adenomatous polyposis. Gut
59:918, 2010

37.  Genetic counselling
◦ Integral part of genetic testing
 Genetic testing
◦ APC gene mutation can be found in 80-90% of FAP
families with present technology
◦ Laboratory method available
 Protein truncation testing
 Gene sequencing
 Linkage testing

38. S.No Family Setting Approximate lifetime risk
of colon cancer
1. General population risk in the US 6%
2. One first-degree relative with colon cancer 2-3 fold increased
3.
Two first-degree relatives with colon cancer
3-4 fold increased
4. First-degree relative with colon cancer
diagnosed at ≤50 years
3-4 fold increased
5. One second- or third-degree relative with
colon cancer
About 1.5 fold increased
6. Two second-degree relatives with colon cancer About 2-3 fold increased
7. One first-degree relative with an adenomatous
polyp
About 2-fold increased
Winawer S et al. Colorectal cancer screening and surveillance:
clinical guidelines and rationale—update based on new evidence.
Gastroenterology. 2003 Feb 1;124(2):544-60.

39.  Colonoscopy annually starting at the age of
10-12 yrs, continuing until age of 35 if
negative
 Flexible proctosigmoidoscopy at age 12-14
yrs; repeat every 1-2 yr until age 35 and
thereafter every 3 yr
 Upper GIE every 1-3 yr starting when polyps
first identified
Syngal S et al. ACG clinical guideline. The American journal
of gastroenterology. 2015 Feb;110(2):223.
S.No Site Age to begin
surveillance
(years)
Surveillance
interval
(years)
Surveillance
procedures and
comments
1. Colon 10-15 1-2 Flexible
sigmoidoscopy or
colonoscopy
2. Upper
gastrointestinal
25-30 1-5 EGD
3. Thyroid Late teenage
years
1 Annual thyroid
examination;
annual thyroid USG
4. Intrabdominal
desmoids
1 Annual abdominal
palpation.

40.  Hereditary component to be evaluated and ruled
out in young patients with CRC
 Family members- counselling
 Correct and effective screening- reduces mortality
and morbidity due to syndromic malignancy

41. THANK YOU!!!