Gardner

1

• Gardners syndrome A case report
• ????????????
• ???????? ???
• 2002/4/6

2
Chief Complaint

• 25 y/o female
• Burning sensation of throat and acid
  regurgitation for one week

3
Past History

• Mesentary fibromatosis s/p debulking surgery and
  bowel resection in 1998 and 2000/7 at CGMH
• Left hydronephrosis s/p PCN insertion on 2000/8
• DM (-), HTN (-), Allergy (-)
• Smoking (-), Drinking (-)
• Family History non-contributory

4
Present Illness (I)

• 25 y/o married female
• Vomiting and abdominal pain since 1998
• Mesenteric fibromatosis was diagnosed at CGMH
• Two times of debulking surgery and bowel
  resection on 1998 and 2000/7
• Short bowel (80cm) and residual tumor were noted

5
Present Illness (II)

• Admitted to GS ward due to post-prandial vomiting
  on 2000/8
• Admitted to Urology due to obstructive uropathy
  on 2000/9

6
Abdominal CT
7
Present Illness (III)

• Burning sensation of throat and acid
  regurgitation for one week
• Post-prandial vomiting
• Body weight loss

8
Physical examination

• Height 173.5cm Weight 36 Kg
• T/P/R 36.2/70/19 BP 120/80
• General appearance thin and tall
• Conscious clear
• Conj not pale, sclera not icteric
• no oral / buccal pigmentation
• Chest Clear BS, RHB without murmur
• Abd tenderness (-), BS hyperactive
• palpable mass over RLQ/hypogastric
  area, oval
• shape, 10x 5cm, hard nature,
  non-movable
• Ext no edema, no pigmentation

9
Polyposis of stomach
Fundic gland polyp
10
Tentative diagnosis

• Polyposis of stomach and duodenum
• Mesentary fibromatosis
• ? Consider Familial polyposis coli plus
• soft tissue tumor
• ? Gardners syndrome

11

• Familial adenomatous polyposis with associated
  syndrome

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Gardners syndrome

• Familial polyposis coli
• Combined with osteoma and soft tissue tumor
• ? Gardners syndrome
• Combined with Brain tumor
• ? Turcots syndrome

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Polyposis of colon
Tubular adenoma
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Abdominal CT
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Osteoma
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Odontoma
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Mesenteric fibromatosis
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Diagnosis

• Gardners syndrome with manifestations of
• a. Polyposis of stomach, duodenum and
• colon
• b. mesentery fibromatosis s/p debulking
• surgery with residual tumor and bilateral
  
• hydronephrosis, total GI obstruction and
• short bowel syndrome
• c. Osteoma/odontoma of maxillary, frontal
• bone and mandible

19
Admission course

• Total parenteral nutrition due to total GI
  obstruction
• COX-2 NSAID ( Celebrex ) for familial polyposis
  coli
• Consider C/T with doxorubicin and DITC regimen
• Recurrent OSSA sepsis

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Further plan

• Medical management for fibromatosis
• Home total parenteral nutrition
• Mental support
• Family screening

21
Discussion

• Polyposis of GI tract
• Current management of FAP
• Gardners syndrome
• Current management of fibromatosis

22
Classification of polyps

• Non-neoplastic polyp
• Hyperplastic polyp
• Juvenile polyp
• Inflammatory polyp
• Lymphoid polyp

• Neoplastic polyp
• Benign
• Tubular adenoma
• Tubulovillous adenoma
• Villous adenoma
• Malignant
• Carcinoma in situ
• Intramucosal carcinoma
• Invasive carcinoma

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Classification of polyposis syndrome

• Inherited adenomatous polyposis syndrome
• Classic FAP
• Gardners variant
• Turcots variant
• Non-familial multiple polyposis syndrome
• Cronkhite-Canada syndrome
• Lymphoid polyposis

• Familial hamartomatous polyposis syndrome
• Peutz-Jeghers syndrome
• Juvenile polyposis

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Familial adenomatous polyposis with associated
syndrome
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Familial adenomatous polyposis

• Chromosome 5q, APC gene
• Autosomal dominant
• Progressive development of hundreds to thousands
  of adenomatous polyps in colon
• Inevitable to became colon cancer
• Onset 25 y/o cancer 39
  y/o
• Symptom 33 y/o death 42 y/o
• Diagnosis 36 y/o 90
  identified 50 y/o

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Familial adenomatous polyposis

• Surgery
• Timing
• Extent of surgery ( total proctocolectomy vs.
  subtotal colectomy )
• Medical management
• COX-2 NSAID

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Celecoxib vs. FAP
N Eng J Med 2000 342 1946-1952

• Double-blind, placebo controlled
• Three arm
• Celecoxib 100mg bid for 6 months
• Celecoxib 400mg bid
• Placebo
• Colonscopy at beginning and end
• Results

placebo(15) 100mg(32) 400mg (30)
Beginning 15.5-13.4 11.5-8.5 12.3-8.2
End(number/size) 4.5/4.9 11.9/14.6 28 /30.7
P valve 0.33/0.09 0.003/0.001
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Gardners Syndrome

• Familial adenomatous polyposis
• Extraintestinal manifestation
• Bone
• Osteoma of mandible (90), skull, and long bones
• Exostoses
• Dental abnormalities (supernumerary teeth,
  impacted teeth)
• Congenital hypertrophy of the retinal pigmented
  epithelium (CHRPE)
• Mesenteric fibromatosis (Desmoid tumors)

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Desmoid tumors

• Surgery
• High recurrent rate (20-80)
• Radiotherapy
• Total dose of 50-60 Gy
• As an adjunct to surgery
• Drop recurrent rate to 20-40 ( for abdominal
  wall or extra-abdominen)
• No response / higher recurrence for
  intra-abdominal lesion

30
Desmoid tumors

• Medical therapy
• NSAID
• Tamoxifen / Medroxyprogesterone / LHRH analouge
• Interferon, steroid, colchicine.
• Chemotherapy
• Doxorubicin / Dacarbazine