Gastrointestinal Cancers in a Peutz–Jeghers Syndrome family: A Case Report

다국어 초록 (Multilingual Abstract)

A 17-year-old man was diagnosed as Peutz-Jeghers syndrome (PJS) because of pigmented lip and multiple gastrointestinal polyps. He had anemia and underwent polypectomy on the duodenum and colon. His maternal family members were patients with PJS. His mother used to be screened with endoscopy to remove large polyps. One and half years later, he underwent jejunal segmental resection due to intussusceptions. He underwent endoscopic polypectomy every 2 to 3 years. When he was 23 years old, high-grade dysplasia was found in colonic polyp and his mother underwent partial pancreatectomy due to intraductal papillary mucinous carcinoma. When he was 27 years old, diffuse gastric polyps on the greater curvature of corpus expanded and grew. Therefore, wide endoscopic polypectomy was done. Histological examination revealed focal intramucosal carcinoma and low-grade dysplasia in hamartomatous polyps. We report cases of cancers occurred in first-degree relatives with PJS.

참고문헌 (Reference)

1 Peutz JL, "Very remarkable case of familial polyposis of mucous membrane of intestinal tract and nasopharynx accompanied by peculiar pigmentations of skin and mucous membrane" 10 : 134-146, 1921

2 Giardiello FM, "Very high risk of cancer in familial Peutz-Jeghers syndrome" 119 : 1447-1453, 2000

3 Latchford AR, "Peutz-Jeghers syndrome: intriguing suggestion of gastrointestinal cancer prevention from surveillance" 54 : 1547-1551, 2011

4 Kopacova M, "Peutz-Jeghers syndrome: diagnostic and therapeutic approach" 15 : 5397-5408, 2009

5 Beggs AD, "Peutz-Jeghers syndrome: a systematic review and recommendations for management" 59 : 975-986, 2010

6 Chong I, "Pancreatic cancer, In Harrison’s Principles of Internal Medicine. 18th ed. Vol. 1" Mc- Graw-Hill 786-789, 2012

7 van Lier MG, "High cancer risk in Peutz-Jeghers syndrome: a systematic review and surveillance recommendations" 105 : 1258-1264, 2010

8 Jeghers H, "Generalized intestinal polyposis and melanin spots of the oral mucosa, lips and digits: a syndrome of diagnostic significance" 241 : 1031-1036, 1949

9 Hearle N, "Frequency and spectrum of cancers in the Peutz-Jeghers syndrome" 12 : 3209-3215, 2006

10 Hemminki A, "A serine/threonine kinase gene defective in Peutz-Jeghers syndrome" 391 : 184-187, 1998