GUT CLUB MEET

April 1, 2021

a case of:
triple synchronous malignancy

Dr. Ashish Satyal

Resident, II yr
Dept of Gastroenterology
Case History:
42 yr old, Housewife

 Constipation & Incomplete Evacuation of bowel - on/off x 10 months

 Lower Abdominal pain x 10 months – aggravated x past 4m (relief with defecation)

 Tenesmus: Defecating – small amounts, watery, mucus – 10-12 x per day
 Hematochezia - on/off x 3 months – Continuous & Aggravated x past 15 days

 Significant Weight loss: 15kgs in past 4 months

History (contd):
 Family Hx:
• Father – Dx of alledged ‘ stomach cancer’ (in his 40’s)
– For which he was operated upon
– Died 2 years later
– (no documentation)

• Siblings: 1 Brother & 1 sister

: Asymptomatic
Pertinent Physical Exam Findings:
• GC: Fair; Built: Normal
• Vitals: Stable
• Pallor + Pedal Edema + Icterus – Superficial LN (Neck/Axilla) – Cy – Cl – Hydration – N
• Skin – normal, cutaneous markers -ve

 P/abd:
• No visible vessels, mass, pulsations, or any distension
• Soft, Non-tender, no masses felt, no organomegaly
• Resonant to percussion (no dullness)
• BS+
• DRE: growth+

• Rest of Systemic Exam: Respiratory/Cardiac/Nervous System - Normal

Labs:
• Hb: 7.8 ; ESR: 62 • RBS: 258
• TLC: 7,800 N-66%; L-13%; E-10%; M-10%
• Platelets: 4.4 lakhs/mm3 • BUN: 41 / Creat: 0.98

• LFT: 0.3/0.1/6.5/3.8/15/12/97/20
• PT: 14.6 / INR: 1.09
• PS: Normocytic Hypochromic Anemia
with Relative Eosinophilia
• HIV I & II / HbsAg/ Anti-HCV – NR

• Vit B12: 100

Colonoscopy:

Rectum: 3-5cm from the Anal Verge:

Circumferential, lumen-occluding, ulceroproliferative growth (with surface ulcerations)
HPE: Adeno Carcinoma, Well Differentiated (Grade I)
Colonoscopy:

Ascending Colon:
2x2 cms sessile polypoidal growth in proximal ascending colon with surface ulcerations (Bx obtained)
Cecum:
Few sessile polyps of 1 cm each with normal overlying mucosa
HPE: Villous Adenoma with High Grade Dysplasia
CECT Abdomen:

 Rectum: Asymmetrical circumferential wall thickening with luminal narrowing

& homogenous contrast enhancement
 Maximum wall thickness: 2 cm & seen extending for a length of = 6.1 cms
 Wall thickness is seen  5 cms above the level of anal verge

 & infiltration of posterior wall of the vagina

 Mildly enlarged peri-rectal & pre-sacral lymphnodes - metastatic
 3rd portion of Duodenum:
 Small homogenously enhancing polypoidal lesion: measuring 10x 17 mm
UGI Endoscopy:

D3: Semi-circumferential growth - ~ 2x2 cms - with overlying ulceration

HPE: Adeno Carcinoma, Well Differentiated (Grade I)

PET CT Scan:

 Metabolically active asymmetric  Metabolically active  Metabolically active large polyp

transmural circumferential thickening eccenteric polypoidal in the proximal ascending
of the rectum with adjacent
thickening involving the colon/cecum measuring 2.8 x 2
pararectal infiltration & infiltration of
posterior wall of the vagina proximal third part of the cm
duodenum – synchronous & another small pedunculated
lesion polyp in the ascending colon –
 Few enlarged/prominent mesorectal, synchronous lesions
inferior mesenteric, superior rectal
lymph nodes
(likely mets)
Discussion Points:
 Current Issue:

 Bx Proven Adeno Ca: Small Bowel (proximal D3); Asc Colon; Rectum
 Peri-Rectal / Inferior -mesenteric LN (likely metastatic)
 Infiltration of Posterior wall of Vagina

 Clinching a Diagnosis:

 Familial CRC subtype Vs Sporadic Cancer

 If Familial: which type ?
 ? Possibility of Duodenal Adeno Ca  giving rise to  (intraluminal) Colonic/Rectal Mets

 Genetic Mutation Analysis (for Molecular Abnormalities)

Management options?
Discussion: Colo-rectal malignancies
• Synchronous tumours: 2 or more tumours present at the same time
• Metachronous tumours: where the 1st tumour is followed by a 2nd one at a later date
• Common in HNPCC

• Any individual who is diagnosed with 2 primary colon cancers needs to be evaluated for
HNPCC (Lynch Syndrome)
Points FOR/AGAINST --- Familial Vs Sporadic CRC:
Clinical Features: Familial CRC Sporadic CRC:
(Lynch Syndrome):
Mean age at diagnosis (yrs) 45 67
Multiple colon cancers 35% 4-11%
Synchronous colon cancers 18% 3-6%
Metachronous colon Cancers 24% 1-5%
Proximal Location of the initial cancer 72% 35%
Malignant tumors at other sites Yes No
(extra-colonic)
Mucionous & Poorly differentiated colon Common Infrequent
cancers
Prognosis Favourable Variable
(MSI favors better prognosis)
D/d of:
Familial CRC Syndromes with Extra-colonic site malignancy:
Familial CRC/Polyposis Types:
HNPCC (Lynch Syndrome)
Familial Adenomatous
Polyposis (FAP)
Extra-colonic Malignancies:
 Gastrointestinal (anywhere in GI tract)
 Female reproductive (endometrial and ovarian)
(Female patients: 27–71% lifetime risk of endometrial cancer
3–13% risk of developing ovarian cancer)
 Urinary tract
 Skin neoplasms
 Around 90% of pts with FAP  Adenomatous polyps in the
duodenum (particularly in the ampullary region)
 Papillary thyroid cancer, adrenal carcinomas, hepatoblastoma,
central nervous system tumours, and desmoid tumours
cutaneous non-malignant lesions
D/d of:
Familial CRC Syndromes with Extra-colonic site malignancy:
Familial CRC/Polyposis Types: Extra-colonic Malignancies:
Peutz-Jehgher Syndrome increased risk:
(hamartomatous polyps throughout the GI tract, Colorectal, gastric, small bowel
but mainly in the  small bowel, colon, stomach, pancreas, breast, ovary, lung, cervix, uterus, & testicular
and rectum) cancers

MUTYH-associated polyposis (MAP)  Upper gastrointestinal polyps (fundic and duodenal)

 increased incidence of breast cancer - seen in female
bi-allelic mutation carriers
 When to suspect HNPCC (Lynch Syndrome) ?
 A strong family history of colorectal cancer or
 HNPCC-associated extra-intestinal cancers*, or
 A history of colorectal cancer at a young age
- should lead to a high level of clinical suspicion

2 main Diagnostic Guidelines - used to identify pts with HNPCC (in the western world):

The Revised Amsterdam criteria (Amsterdam II criteria) (1998)

(to identify families with a high risk of developing an autosomal-dominant-inherited cancer)

The Revised Bethesda guidelines (2004)

(for patients with colorectal cancer at increased risk of developing HNPCC)
Revised Bethesda Guidelines for Lynch Syndrome (2004)
1. CRC diagnosed in an individual < 50 years of age
2. Presence of synchronous or metachronous CRCs or
other Lynch syndrome-associated extracolonic tumors* - regardless of age
3. Person with CRC & a first-degree relative with a Lynch syndrome-related tumor,
with one of the cancers diagnosed at < 50 years of age
4. Person with CRC with 2 or more first-degree or second degree relatives with a Lynch
syndrome-related tumor - regardless of age

* Endometrium, Ovary, Stomach, Ureter/Renal pelvis, Pancreas, Brain, Hepatobiliary tract, Small intestine, and multiple
Sebaceous Adenomas, carcinomas and keratoacanthomas in the Muir-Torre variant of Lynch syndrome
Tumor Board Discussion – Mx options:
Aim: Young Female; Hence: Preservative-Curative Resection (if possible)
 Option A:  Option B:  Option C:
 Whipple’s Procedure  Duodenal Limited Resection  Whipple’s procedure
& end-to-end anastomosis
 Neo-adjuvant
Chemoradiation for  Neo-adjuvant
 Neo-adjuvant Chemo- Chemotherapy
Colonic lesions therapy
 Abdomino-Perineal  Resection of High-grade
Resection (APR)  Total Colectomy & Dysplasia (Asc Colon)
Permanent Ileostomy

 APR

 Permanent Colostomy
THANK YOU!