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

Abstract

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.

Further observations on LKB1/STK11 status and cancer risk in Peutz–Jeghers syndrome

“…Disease expression in PJS is well documented to display interand intrafamilial variation (Burdick et al, 1982;Foley et al, 1998). Establishing a relationship between a number of the features of the disease and genotype is, however, inherently problematic because features typical of the disease are criteria for ascertainment.…”

Role of Lkb1 , the causative gene of Peutz–Jegher's syndrome, in embryogenesis and polyposis

“…These include epithelium misplacement, the presence of many cells of normal appearance, rare or nonexistent nuclear atypia, and lack of lymphatic invasion, suggesting early-stage adenomatous origin (17,18). In human PJS, the most common site of polyps is the small intestine, followed by the large intestine and stomach (19,20). However, in the present Lkb1 ϩ/Ϫ mice, the polyps were predominantly located in the glandular stomach.…”

The molecular basis and clinical aspects of Peutz-Jeghers syndrome

“…In three large series with a total of 404 patients, 78% of patients had polyps in their small intestine, 42% in their colon, 38% in their stomach, and 28% had polyps in their rectum [20,26,27]. More rarely, polyps have been reported in the mouth, esophagus, ureter, bladder, renal pelvis, bronchus, nose, maxillary sinuses and breasts [28][29][30][31][32][33]. Classically, the polyps are hamartomatous in appearance, but the histology varies.…”