Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up.
A family group of ten patients with the Peutz-Jeghers syndrome has been followed for a 27-year period. Eight members of the family had one or more manifestations of the syndrome. One member of the family died following a bypass procedure of a nonresectable carcinoma of the jejunum. Postmortem examination revealed this to be an adenocarcinoma of the jejunum arising in a Peutz-Jeghers polyp and metastases were present in the mesenteric lymph nodes. Two members of the family developed breast carcinomas, one arising in a fibroadenoma; both patients died, one of metastatic breast carcinoma, the other of a second primary malignancy (adenocarcinoma of the jejunum arising in a Peutz-Jeghers polyp). Three family members had benign ovarian tumors, one patient had a benign breast tumor and another patient had a benign colloid thyroid nodule. While the authors of this report believe that they have added a documented case of an adenocarcinoma of the jejunum arising in a Peutz-Jeghers polyp to the literature, the exact risk of intestinal cancer in the Peutz-Jeghers syndrome is unknown, but probably very small. Gastrointestinal surgery should continue to be performed in symptomatic patients and all patients should be followed closely at regular intervals.
D000230:Adenocarcinoma / Q000235:genetics / Q000473:pathology; D000328:Adult; D001943:Breast Neoplasms / Q000556:secondary; D002648:Child; D002675:Child, Preschool; D003110:Colonic Neoplasms / Q000235:genetics; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D007580:Jejunal Neoplasms / Q000235:genetics / Q000473:pathology; D008297:Male; D009362:Neoplasm Metastasis; D009378:Neoplasms, Multiple Primary; D010051:Ovarian Neoplasms / Q000556:secondary; D010375:Pedigree; D010580:Peutz-Jeghers Syndrome / Q000235:genetics* / Q000473:pathology; D013274:Stomach Neoplasms / Q000235:genetics