Increased Risk of Cancer in the Peutz–Jeghers Syndrome

TLDR

Peutz–Jeghers syndrome is an autosomal dominant disorder marked by gastrointestinal hamartomatous polyps and mucocutaneous melanin spots, yet its cancer incidence has been poorly quantified. We followed 31 patients from 1973 to 1985, confirming all cancers by histopathology. Forty‑eight percent (15/31) developed cancer—four gastrointestinal, ten non‑gastrointestinal, and one multiple myeloma—at a mean age of 25 ± 20 years after diagnosis, yielding an 18‑fold higher relative risk than the general population. Published in N Engl J Med 1987; 316:1511–4.

Abstract

The Peutz–Jeghers syndrome is an autosomal dominant hereditary disease characterized by hamartomatous polyps of the gastrointestinal tract and by mucocutaneous melanin deposits. The frequency of cancer in this syndrome has not been studied extensively. Therefore, we investigated 31 patients with the Peutz–Jeghers syndrome who were followed from 1973 to 1985. All cases of cancer were verified by histopathological review. Cancer developed in 15 of the 31 patients (48 percent) — gastrointestinal carcinomas in 4, nongastrointestinal carcinomas in 10, and multiple myeloma In 1. In addition, adenomatous polyps of the stomach and colon occurred in three other patients. The cancers were diagnosed when the patients were relatively young, but after the Peutz–Jeghers syndrome had been diagnosed (interval between diagnoses, 25±20 years; range, 1 to 64). According to relative-risk analysis, the observed development of cancer in the patients with the syndrome was 18 times greater than expected in the general population (P<0.0001). Our results suggest that patients with the Peutz–Jeghers syndrome have an increased risk for the development of cancer at gastrointestinal and nongastrointestinal sites. (N Engl J Med 1987; 316:1511–4.)