Print friendly version
Peutz Jeghers syndrome
Other Names for this Disease
- Lentiginosis, perioral
- Periorificial lentiginosis syndrome
- Peutz-Jeghers polyposis
- Polyposis, hamartomatous intestinal
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.
On this page
Peutz-Jeghers syndrome (PJS) is caused by mutations in the STK11 gene. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way. A mutation in one copy of this gene alters the structure or function of the STK11 protein, disrupting its ability to restrain cell division. Researchers suggest that an additional gene mutation, either in the second copy of the STK11 gene or in another gene, can occur in certain cells during a person's lifetime. This combination of genetic changes may trigger the formation of noncancerous polyps and cancerous tumors in people with Peutz-Jeghers syndrome.
Some people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.
Last updated: 3/4/2010
- Peutz-Jeghers syndrome. Genetics Home Reference (GHR). 2006; http://ghr.nlm.nih.gov/ghr/disease/peutzjegherssyndrome. Accessed 9/3/2009.