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 CGMH Two times of debulking surgery and bowel resection on 1998 and 2000/7 Short bowel (80cm) and residual tumor were 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 syndrome –Lymphoid polyposis Familial hamartomatous polyposis syndrome –Peutz-Jeghers syndrome –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. subtotal colectomy ) Medical management –COX-2 NSAID

Celecoxib vs. FAP N Eng J Med 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 End(number/size) 4.5%/4.9% 11.9%/14.6% 28% /30.7 P valve 0.33/ /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 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 analouge –Interferon, steroid, colchicine…. –Chemotherapy Doxorubicin / Dacarbazine