Peutz-Jeghers syndrome - Medical Meaning and Pronunciation

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07/02/23

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Peutz-Jeghers syndrome

Peutz-Jeghers syndrome: A cancer genetic disorder characterized by freckle-like spots on the lips, mouth and fingers and polyps in the intestines. Patients are at increased risk for developing 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 a gene on chromosome 19p13.3 called STK11 (serine/threonine-protein kinase 11) that appears to function as a tumor suppressor gene. Half of patients have an affected parent from whom they inherited an STK11 mutation and the other half have a new mutation in the STK11 gene. The risk of cancer in the Peutz-Jeghers syndrome is very high. Among 210 patients with the symdrome, the risk of developing noncutaneous cancer between the ages of 15 to 64 was 93%. The highest cumulative risks were for breast cancer (54%), colon cancer (39%), pancreatic cancer (36%), stomach cancer (29%), and ovarian cancer (21%).

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