Peutz-Jeghers syndrome. A clinicopathologic study of a large family with a 27-year follow-up

Cancer. 1982 Nov 15;50(10):2139-46. doi: 10.1002/1097-0142(19821115)50:10<2139::aid-cncr2820501028>;2-k.


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.

Publication types

  • Case Reports
  • Comparative Study

MeSH terms

  • Adenocarcinoma / genetics
  • Adenocarcinoma / pathology
  • Adult
  • Breast Neoplasms / secondary
  • Child
  • Child, Preschool
  • Colonic Neoplasms / genetics
  • Female
  • Follow-Up Studies
  • Humans
  • Jejunal Neoplasms / genetics
  • Jejunal Neoplasms / pathology
  • Male
  • Neoplasm Metastasis
  • Neoplasms, Multiple Primary
  • Ovarian Neoplasms / secondary
  • Pedigree
  • Peutz-Jeghers Syndrome / genetics*
  • Peutz-Jeghers Syndrome / pathology
  • Stomach Neoplasms / genetics