Gardner’s syndrome – A case report

佛教慈濟綜合醫院大林分院內科部胃腸肝膽科 曾國枝

2002/4/6

Chief Complaint

• 25 y/o female

• Burning sensation of throat and acid regurgitation for one week

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

Present Illness (I)

• 25 y/o married female• Vomiting and abdominal pain since 1998• Mesenteric fibromatosis was diagnosed at C

GMH• Two times of debulking surgery and bowel

resection on 1998 and 2000/7• Short bowel (80cm) and residual tumor wer

e noted

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

Abdominal CT

Present Illness (III)

• Burning sensation of throat and acid regurgitation for one week

• Post-prandial vomiting

• Body weight loss

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

Polyposis of stomach

Fundic gland polyp

Tentative diagnosis

• Polyposis of stomach and duodenum

• Mesentary fibromatosis

Consider Familial polyposis coli plus

soft tissue tumor

Gardner’s syndrome

Familial adenomatous polyposis with associated syndrome

Gardner’s syndrome

• Familial polyposis coli

• Combined with osteoma and soft tissue tumor

Gardner’s syndrome

• Combined with Brain tumor

Turcot’s syndrome

Polyposis of colon

Tubular adenoma

Abdominal CT

Osteoma

Odontoma

Mesenteric fibromatosis

Diagnosis

• Gardner’s 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

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

Further plan

• Medical management for fibromatosis

• Home total parenteral nutrition

• Mental support

• Family screening

Discussion

• Polyposis of GI tract

• Current management of FAP

• Gardner’s syndrome

• Current management of fibromatosis

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

Classification of polyposis syndrome

• Inherited adenomatous polyposis syndrome– Classic FAP – Gardner’s variant – Turcot’s variant

• Non-familial multiple polyposis syndrome– Cronkhite-Canada syn

drome– Lymphoid polyposis

• Familial hamartomatous polyposis syndrome– Peutz-Jeghers syndrom

e

– Juvenile polyposis

Familial adenomatous polyposis with associated syndrome

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

Familial adenomatous polyposis

• Surgery– Timing– Extent of surgery ( total proctocolectomy vs. su

btotal colectomy )

• Medical management– COX-2 NSAID

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

Gardner’s 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)

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

Desmoid tumors

• Medical therapy– NSAID – Tamoxifen / Medroxyprogesterone / LHRH ana

louge– Interferon, steroid, colchicine….– Chemotherapy

• Doxorubicin / Dacarbazine