A case of Cowden's syndrome presenting with gastric carcinomas and gastrointestinal polyposis.
BACKGROUND
A 73-year-old white man was referred to a cancer genetics clinic for evaluation of a approximately 20-year history of mixed upper and lower gastrointestinal polyposis, including hyperplastic, inflammatory and adenomatous polyps, colonic ganglioneuromas, and associated diffuse, esophageal glycogenic acanthosis. Two synchronous gastric carcinomas had been identified before referral and the patient had undergone a total gastrectomy, omentectomy and cholecystectomy. Multiple hyperplastic polyps and small, sessile polyps were also observed in the gastrectomy specimen.


METHODS
History and physical examination, upper and lower gastrointestinal endoscopy and biopsy, genetic testing, molecular pathology investigations (immunohistochemistry), thyroid ultrasonography, fine-needle aspiration of a thyroid nodule.


METHODS
Cowden's syndrome.


RESULTS
Genetic counseling, thyroidectomy, vitamin B(12) supplementation, continued endoscopic surveillance and genetic testing of at-risk family members.
Al-Thihli
Khalid
K
Sultan Qaboos University, Oman.
Palma
Laura
L
Marcus
Victoria
V
Cesari
Matthew
M
Kushner
Yael B
YB
Barkun
Alan
A
Foulkes
William D
WD
D000368:Aged; D001707:Biopsy, Needle; D002277:Carcinoma / Q000209:etiology*; D016099:Endoscopy, Gastrointestinal; D005767:Gastrointestinal Diseases / Q000209:etiology*; D005817:Genetic Counseling; D005821:Genetic Techniques; D006223:Hamartoma Syndrome, Multiple / Q000150:complications* / Q000175:diagnosis / Q000628:therapy; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D011127:Polyps / Q000209:etiology*; D013274:Stomach Neoplasms / Q000209:etiology*; D013961:Thyroid Gland / Q000000981:diagnostic imaging; D013965:Thyroidectomy; D014463:Ultrasonography; D014805:Vitamin B 12 / Q000627:therapeutic use
D014805:Vitamin B 12