Peutz-Jeghers syndrome: A cancer genetic disorder characterized by freckle-like spots on the lips, mouth and fingers and benign polyps in the intestines. Patients are at increased risk for cancer of the esophagus, stomach, colon, rectum, breast, ovary, testis and pancreas.

The polyps may occur in any part of the gastrointestinal tract, but polyps in the jejunum (the middle portion of the small intestine) are a consistent feature of the disease. Intussusception (telescoping of the bowel) and intestinal bleeding are also common symptoms.

Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign tumor of the ovary. Males may develop Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia (male breast enlargement). Females can also have a malignancy of the cervix called adenoma malignum.

Peutz-Jeghers syndrome is inherited in an autosomal dominant manner and is due to mutation in gene on chromosome 19p13.3 called STK11 (serine/threonine-protein kinase 11). Half of patients have an affected parent and the other half have a new mutation in the STK11 gene.

In 1921 Peutz was the first to recognize the familial association of gastrointestinal polyps and spots. A review by Jeghers et al. in The New England Journal of Medicine in 1949 put the polyps-and-spots syndrome "on the map."

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