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.
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