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Genetic and Rare Diseases Information Center (GARD)

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Peutz-Jeghers syndrome


Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Your Question

I have many dark colored spots on my lips, inside my cheek, and on my gum. These spots developed while I was in my thirties. Although I do not have gastrointestinal symptoms and my family history is negative, my dermatologist has suggested the possibility of Peutz-Jeghers syndrome (PJS). I am concerned about the high incidence of cancer in PJS patients and would like to know if definitive testing is available.

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What causes Peutz-Jeghers syndrome?

Peutz-Jeghers syndrome (PJS) is caused by changes (mutations) in the STK11 gene. STK11 is a tumor suppressor gene which means that it encodes a protein that helps keep cells from growing and dividing too rapidly or in an uncontrolled way. Mutations in STK11 result in a defective protein that is unable to carry out its normal role. This leads to the development of the polyps and tumors found in PJS.[1]

Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.[1]
Last updated: 3/15/2015

How is Peutz-Jeghers syndrome diagnosed?

A diagnosis of Peutz-Jeghers syndrome (PJS) is based on the presence of characteristic signs and symptoms. In people with a clinical diagnosis of PJS, genetic testing of the STK11 gene confirms the diagnosis in approximately 100% of people who have a positive family history and approximately 90% of people who have no family history of PJS.[2]

Genereviews offers more detailed information regarding the diagnosis of PJS including the clinical diagnostic criteria. Click here to view this resource.
Last updated: 3/15/2015

Is genetic testing available for Peutz-Jeghers syndrome?

Yes, genetic testing is available for STK11, the gene known to cause Peutz-Jeghers syndrome.[2] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutation in the family is known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 3/15/2015

How can I find a genetics professional in my area?

Genetics clinics are a source of information for individuals and families regarding genetic conditions, treatment, inheritance, and genetic risks to other family members. More information about genetic consultations is available from Genetics Home Reference. To find a genetics clinic, we recommend that you contact your primary healthcare provider for a referral.

The following online resources can help you find a genetics professional in your community:
Last updated: 6/5/2014

References
Other Names for this Disease
  • Lentiginosis, perioral
  • Periorificial lentiginosis syndrome
  • Peutz Jeghers polyposis
  • PJS
  • Polyposis, hamartomatous intestinal
Related Diseases
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.