A case of Peutz-Jeghers syndrome associated with high-grade intramucosal neoplasia.
Peutz-Jeghers syndrome (PJS) is a rare, inherited autosomal dominant disease characterized by mucocutaneous pigmentation and polyps in the gastrointestinal tract. Here, we report the rare case of a 64-year-old female patient with pigmentation on her lips and extremities for over 63 years and intermittent abdominal pain and, diarrhea for 3 years. The presence of intestinal and colorectal hamartomatous polyps was confirmed. The removal and characterization of her rectal polyp showed it to be a typical hamartomatous polyp with a portion of it being an adenoma with high-grade intramucosal neoplasia. A survey of the patient's family identified 9 people in the family with Peutz-Jeghers syndrome and three of them have already died from colorectal cancer. This case study serves as an example of how imperative it is to survey the patient about their family history in order to detect early cancerous lesions.
Department of Gastroenterology, Beijing Military General Hospital Beijing 100700, China.
Ru-Ying
RY
Fan
Department of Gastroenterology, Beijing Military General Hospital Beijing 100700, China.
Jian-Qiu
JQ
Sheng
D018256:Adenomatous Polyps / Q000235:genetics / Q000473:pathology*; D001706:Biopsy; D003111:Colonic Polyps / Q000235:genetics / Q000473:pathology*; D003113:Colonoscopy; D015179:Colorectal Neoplasms / Q000235:genetics / Q000473:pathology*; D005260:Female; D020022:Genetic Predisposition to Disease; D040941:Heredity; D006801:Humans; D007413:Intestinal Mucosa / Q000473:pathology*; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics / Q000473:pathology*; D010641:Phenotype
Peutz-Jeghers syndrome; cancer; endoscopy; hamartoma