Chris Amos, Ph.D.

Peutz-Jeghers syndrome (PJS) is a genetic condition marked by hyperpigmentation (freckling) of the lips and sometimes other parts of the face, hands, and feet followed by the development of benign polyps called hamartomas throughout the intestines butprimarily in the small intestine.

The freckling is usually not present at birth but becomes noticeable within the first 5 years of life, subsequently fading during adulthood in many individuals. The hamartomas of the small intestine cause most of the clinical symptoms seen in people with PJS, including anemia and sometimes blockages that require surgery to correct.

Studies underway at M.D. Anderson Cancer Center indicate that gastrointestinal symptoms usually developed in PJS patients around 10 years of age and that hamartomas are first removed around 11 years of age. To avoid emergency procedures, people with PJS should receive routine screening of the hamartomas and have the larger hamartomas removed. The hamartomas in the small intestine have a low risk of becoming cancerous. However, polyps in the stomach and colon are more likely to do so and should be monitored endoscopically. In addition, a recent report from the Mayo Clinic indicates that women with PJS have a higher risk for breast cancer, indicating the need for increased breast cancer surveillance.

Last year mutations, or alterations, in a gene called LKB1 or STK11 were identified by investigators in Finland and Germany and mutations in this gene have since been found to cause many cases of PJS. The function of this gene has not yet been determined. A genetic study of PJS at M.D. Anderson Cancer Center that is being funded by the American Cancer Society is studying individuals with PJS and their relatives, so we can better characterize the features of PJS. Genetic testing protocols for PJS are being developed, and we expect within the next year to be able to offer genetic testing and provide results to interested individuals. To learn more about our study, please contact Dr. Christopher Amos at 1-800-248-4856. In addition, a website to be released in early 1999 (http://www.epigenetics.org) will include information about PJS and contact information for physicians who provide care for patients with this condition.