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Peutz-Jeghers Syndrome

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Overview

What is Peutz-Jeghers Syndrome?
Peutz-Jeghers syndrome (PJS) is an inherited condition where individuals are much more likely to develop certain types of cancer, and to develop them at a younger age than is usual. In particular, people with PJS are at risk of getting small growths (called hamartomatous polyps) in the digestive system. These growths can build to become tumors, and can develop into cancer.

The part of the digestive system most affected by these growths is the small intestine, while other parts of the digestive systems such as the ileum, duodenum, stomach and large bowel can also be affected.

There is about a 90% risk of people with PJS getting cancer at some point. Cancer of the breast, colon, rectum, pancreas, stomach, ovaries, lungs, small intestine, and cervix are most common.

Early signs of PJS usually begin in childhood, and include a change in color in parts of the skin. This can look like blue or dark brown freckles, and appear around the mouth, lips, fingers, and toes, and fade when the child gets older.

PJS is caused by a change in a gene called STK11, which was also called LKB1. If one parent has a faulty STK11 gene, there is a 50% chance each of their children will develop PJS.

If genetic testing shows that a person has a genetic risk of developing PJS, they should be followed closely to check for early signs of cancer.

Treatment for cancer related to PJS risk will depend on the type of cancer. In general, treatments may be more aggressive because of increased risk of developing tumors. For example, with breast cancer, it is often recommended to remove the breast (mastectomy) rather than only the area around the tumor (lumpectomy).

Changes in the STK11 gene are the major cause of Peutz-Jeghers Syndrome. Source: McGarrity et al. 2013, GeneReviews and cancer.net. Image created by Iconarray.com. Risk Science Center and Center for Bioethics and Social Sciences in Medicine, University of Michigan. Accessed 2016-06-30.

What is the genetic test?
Genetic testing allows us to identify people at risk of developing Peutz-Jeghers Syndrome. Mutations in a gene called STK11 have been shown to cause PJS. There is a large risk (about 90%) that people with known genetic risk factors in STK11 will develop cancer at some point in their life. Genetic testing allows us to identify people at risk of PJS, where they can be monitored closely for early signs of cancer, and advised to take extra steps to avoid cancer.

How will this affect my health care?
If genetic test results suggest a person is found to be at risk of developing PJS, regular health checks are recommended. These include:

  • From birth: Testicle exam every year. This is a physical exam done by a doctor.
  • From age 8 years: Upper endoscopy every 3 years. To do this, a doctor will pass a small tube with a camera from the mouth down into the stomach.
  • From age 8 years: Capsule endoscopy. To do this, a person will swallow a small pill with a camera in it, which takes pictures of the small intestine. These are sent to a recorder on the outside of the body.
  • From age 8 years: Colonoscopy every three years. To do this, doctor will pass a small tube with a camera the anus into the large intestine.
  • From age 18 years: Breast self-exam every month. This is done by a patient to monitor for possible tumors.
  • From age 18 years: Transvaginal ultrasound and serum CA-125 test every year. A transvaginal ultrasound is done by a doctor, who will place a small probe into the vagina. This sends pictures to a monitor to check for anything abnormal in a woman's reproductive organs, including the uterus, ovaries, and cervix. A serum CA-125 test checks for cancer-related molecules in the blood. These check for ovarian cancer.
  • From age 25 years: Breast MRI exam every year. To do this, a doctor will use a magnetic scanner to take high quality images of breast tissue to check for possible tumors.
  • From age 25 years: Pelvic exam with pap smear every year. A pap smear is done by a doctor who will remove cells from the cervix using a spatula and small brush. A pelvic exam is a physical exam done at the same time by a doctor. These check for cancer of the cervix and uterus.
  • From age 25 years: MRI-MRCP or endoscopic ultrasound and CA 19-9 every year. To do an MRI, a doctor will use a magnetic scanner to take high quality images. Endoscopic ultrasound uses high-frequency sound waves to take high-quality images. CA 19-9 is a blood test to check for cancer-linked molecules. These tests are all used to check for cancer of the pancreas.
  • After age 50 years: Colonoscopy every 1-2 years. To do this, doctor will pass a small tube with a camera the anus into the large intestine.

Who is at risk?
PJS is rare, and develops in less than 1 in 25,000 people. However, if a person’s mother or father has a change in the STK11 gene that causes PJS, he or she has a 50% chance of getting the disease (i.e. a 1 in 2 chance). Similarly, if a person’s brother or sister has the STK11 risk gene, they will have a 50% risk of getting PJS.

Does my ancestry affect my risk?
There is no strong evidence linking PJS with ancestry.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Treatment

Routine cancer treatment is recommended for individuals with PJS who develop cancer. Certain cancers may be treated more aggressively, however.

What are the treatments for PJS?
Treatment for cancer related to PJS risk will depend on the type of cancer. If a person is found to be have a genetic risk of PJS, they will have regular health visits to check for early signs of cancer: These include:

  • From birth: Testicle exam every year. This is a physical exam done by a doctor.
  • From age 8 years: Upper endoscopy every 3 years. To do this, a doctor will pass a small tube with a camera from the mouth down into the stomach.
  • From age 8 years: Capsule endoscopy. To do this, a person will swallow a small pill with a camera in it, which takes pictures of the small intestine. These are sent to a recorder on the outside of the body.
  • From age 8 years: Colonoscopy every three years. To do this, doctor will pass a small tube with a camera the anus into the large intestine.
  • From age 18 years: Breast self-exam every month. This is done by a patient to monitor for possible tumors.
  • From age 18 years: Transvaginal ultrasound and serum CA-125 test every year. A transvaginal ultrasound is done by a doctor, who will place a small probe into the vagina. This sends pictures to a monitor to check for anything abnormal in a woman's reproductive organs, including the uterus, ovaries, and cervix. A serum CA-125 test checks for cancer-related molecules in the blood. These check for ovarian cancer.
  • From age 25 years: Breast MRI exam every year. To do this, a doctor will use a magnetic scanner to take high quality images of breast tissue to check for possible tumors.
  • From age 25 years: Pelvic exam with pap smear every year. A pap smear is done by a doctor who will remove cells from the cervix using a spatula and small brush. A pelvic exam is a physical exam done at the same time by a doctor. These check for cancer of the cervix and uterus.
  • From age 25 years: MRI-MRCP or endoscopic ultrasound and CA 19-9 every year. To do an MRI, a doctor will use a magnetic scanner to take high quality images. Endoscopic ultrasound uses high-frequency sound waves to take high-quality images. CA 19-9 is a blood test to check for cancer-linked molecules. These tests are all used to check for cancer of the pancreas.
  • After age 50 years: Colonoscopy every 1-2 years. To do this, doctor will pass a small tube with a camera the anus into the large intestine.

Can treatments cause any problems?
Routine cancer treatment is used to treat people with PJS who develop cancer. However, certain treatments may be more aggressive, For example, with breast cancer, a mastectomy (removing the breasts) may be favored more often that a lumpectomy (removing only the part of the breast with cancer cells), because of the patient's high cancer risk.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Genetic Test

Why do a genetic test?
The major reason people develop PJS is that they inherit a faulty gene that causes it. Genetic testing tells us who is most at risk for developing PJS. Testing for certain genes is particularly important if they are considered to be 'medically actionable' - meaning test results can be used to improve health care.

In the embedded video, Dr. Dan Roden of Vanderbilt University discusses how genetic testing has begun to influence treatment of patients.

What is the test?
There are several types of genetic tests for risk of PJS. All genetic tests look at your DNA to try to identify faulty genes previously associated with PJS.

Many of the people who use this website are patients in hospitals who are part of the eMERGE network. These hospitals are using DNA sequencing to test patients for a number of diseases, including PJS, as recommended by the American College of Medical Genetics and eMERGE network members. Test results found to be medically ‘actionable’ (meaning they can be used to in patient health care) will be returned to patients.

I am concerned whether I should be tested or not, what should I do?
The decision to be tested might be one of the most important decisions you have to make. There are many things you may want to consider. For some people, genetic testing can have positive health benefits, while others may feel a lot of stress and worry. You can read more about these issues in the Concerns & Risks section. It may help to think about testing for a while before making a decision. You may also find it helpful to discuss issues with those close to you, or with your doctor/health professional.

What will the test result mean?
This test will tell your doctor whether you are at risk of developing PJS We test for a number of other diseases, as recommended for testing by the American College of Medical Genetics and the eMERGE network. If you are found to be at risk, your doctor or genetic counselor should help you understand your health care options.

What happens if I am found to be at risk?
If you are found to be at risk for any of the diseases that we test for, a health professional at your llocal site will attempt to contact you as soon as possible. Once we contact you, your doctor or genetic counselor should help you understand your health care options.

What happens if I am NOT found to be at risk?
If you are found NOT to be at risk for any of the diseases that we test for, you will likely NOT be contacted. However, a small number of patients may receive a medical report with results, while other patients may be re-contacted about another research study

If you have not been rec-contacted, please DO NOT ASSUME that you have been tested. There are a number of reasons testing may not have happened yet. For example, studies can sometimes take a very long time to complete, and DNA samples are often not usable because of quality-control issues.

How is the test being performed?
Testing is performed on your DNA, usually from a blood sample. For many patients, your hospital or treatment center may already have some of your DNA stored in a biobank. You may be asked for an additional sample or be asked to give us permission to do testing on the existing samples.

Will it hurt?
For some patients, we may need an additional blood sample. Taking blood may cause some pain, bleeding or bruising at the spot where the needle enters your body. Rarely, taking blood may cause fainting or infection.

Is it safe?
There is a risk that you may experience pain or bleeding if you need to give an additional blood sample. Risks concerning privacy are discussed under Concerns & Risks.

How long will I have to wait for results?
Unfortunately, we cannot give an accurate estimate for the time you will have to wait for results - this will depend on the resources available at the location where you receive treatment and were tested.

Is this a standard test?
Although increasingly more common, this test is not yet standard, and is typically offered as part of a research study.

What type of test is this?

  • Is this test intended to help make a diagnosis? Yes
  • Is this test intended to predict a family history of disease? Yes
  • Is this test intended to check if I am a carrier for a particular disease? Yes
  • Is this test intended to screen for genetic disorders? Yes
  • Is this test intended to screen for disorders related to pregnancy? No
  • Is this test intended to screen for disorders related to newborns? No

Will I need to have this test done more than once?
No, you should not need to have this test done more than once. You will need to keep track of your testing result in order to share with all of your doctors, including those you see at other medical care centers.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Family

Will my genetic test results affect my family?
Your genetic test results may affect your family. In the embedded video, Maureen Smith, a researcher at Northwestern University, recommends first discussing genetic test results with your doctor. Your doctor may refer you to a genetic counselor, who can help you understand test results and guide you toward brochures and websites that can provide information for both you and your family.

  • Before your genetic test: Because genetic information is inherited, it is important to be aware that your genetic test results are often relevant to your family members as well. Results may indicate that you are at risk, or that you are a carrier (see below). Before you have a genetic test, it can be a good idea to think about if and how you would like to share results with your family. Your doctor or genetic counselor should be able to provide more information about this.
  • After your genetic test: For many of the diseases we test for, genetic test results may be relevant to your family members, as well as to you. You may be at risk, and you may be a carrier (see below). If you already have results, it is again important to think about sharing them with family. Again, your doctor or genetic counselor should be able to offer advice on how genetic testing may affect your family members.

Can you (briefly) explain heritability?
We each have about 24,000 genes, which carry the instructions for making and maintaining our bodies. For each gene we typically have two copies – one inherited from each parent. If genetic test results suggest you are at risk of developing a heritable disease, you will have inherited the risk from one or both your parents. Your brothers, sisters, children, parents, and other relatives may also be at risk of developing the same disease.
There are several ways we can inherit a genetic disease, which relates to whether it is recessive or dominant.

  • For a dominant condition, only one copy of a gene needs to be faulty to cause a disease. In this case, if you have one copy of a faulty gene, you may be at high risk of developing the disease. You could pass this faulty gene to one your child or children. PJS is a dominant condition.
  • For a recessive condition BOTH copies of a gene must be faulty to cause a disease. In this case, if a person has only one copy of a faulty gene, they may not be at much greater risk. However, they may pass the faulty gene to their children. Again, this person is called a carrier. PJS is NOT a recessive condition.
Please note that the Resources section provides links to a number of websites that provide a much more detailed explanation of inheritance! Learn.Genetics at the University of Utah have a much more detailed explanation, which we find quite good – you can check it out here.

What is a carrier?
As described above, each of us has two copies of each gene. For recessive genetic conditions, BOTH copies of the gene need to be faulty for the person to be at risk of developing the disease. If a person inherits one faulty copy and one normal copy, they are called a carrier. Although they should not be at greater risk, they may pass the faulty gene copy to their child or children. If they do, and the child also inherits a faulty gene copy from the other parent, that child will be at risk of developing the disease.

What family members could be affected?
If you have PJS, there is a 50% your child will too. Other family members are also at a much higher risk of having PJS.

My children are under 18 years of age – should they be tested?
The American College of Medical Genetics recommend testing children for most of the diseases listed on this website. For PJS and the STK11 risk gene, this is certainly the case: it is very important to identify risk early in life, as this can have important consequences on whether a patient will develop cancer.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Concerns & Risks

What Should I Do If I Have Concerns About Genetic Test Results?
If you are concerned about genetic test results you have received, you should discuss your concerns with your doctor. Your doctor should be able to explain results to you, and may recommend you to a genetic counselor or another doctor that can further help you understand your results. Maureen Smith, a researcher at Northwestern University, discusses these concerns in the embedded video.

Is there a reason why I may be a specific risk?
For most of the disorders discussed on this site, the American College of Medical Genetics recommends genetic testing for individuals with available genetic data.

Are there any implications for having children?
Yes, please see the Family section

Can I expect to experience emotional consequences related to my test result?
A range of reactions are possible and normal. Some patients may experience anxiety or other negative reactions related to genetic testing and results. If this is the case, please discuss with your doctor, who can address your concerns and refer you another health professional if required.

Can I expect to experience social consequences related to my test result?
Some people may feel that there is a stigma attached to having a genetic disease. If you do experience or anticipate any negative social reactions, please discuss with your doctor who can address your concerns.

Can I expect to experience an increase in anxiety?
Many individual experience increased anxiety related to genetic testing. Again, please discuss with your doctor if this is the case.

Are there any implications in terms of discrimination arising from the test result?
Health insurance companies are prevented by law from discriminating against you based on your genetic test results. However, the same law does not apply to long-term disability insurance or to life insurance. Maureen Smith, a researcher at Northwestern University discussed these issues in the video on this page.

If I am found to be at increased risk for developing a disease, are there similar health implications for my family?
Yes, your results may have similar health implications for your family. Please see the Family section.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Sharing

Should I tell other health care providers about my test result?
We do recommend that you share this information with your health care providers. However, as explained by Maureen Smith, a researcher at Northwestern University, what you decide to do with your results is up to you.

Who will see my test results?
People who have access to your medical record will be able to see your genetic test result. This may include health professionals such as doctors, nurses, pharmacists, and genetic counselors. However, health professionals from other centers or hospitals will likely not have access to your results.

Should my other family members be tested?
If you are found to be at risk for a heritable genetic disease, your family may also be at risk. We discuss this further in the Family section.

Will this affect my health insurance?
No, your health insurance will not be affected by this test result. However, as discussed below by Maureen Smith, a researcher at Northwestern University, your life insurance and other areas may be affected.

Who can I contact if they have any more questions?
You can contact your local center, where you received the test. The Resources section also includes a lot of websites that we recommend.

Is it there a risk to my privacy?
Research that uses information from medical records and that involves genetic testing can affect your privacy. Your participation in this research will be held strictly confidential, and only coded numbers will be used to identify specimens and research records. While it is impossible to absolutely guarantee that information in our secure system will never be known by others, we are taking every possible precaution to see that this does not happen.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.

Resources

We are compiling a list of websites to help you understand genetics and genetic test results. If you would like to suggest other resources for this section, please feel free to This email address is being protected from spambots. You need JavaScript enabled to view it.!
INFORMATION ABOUT PEUTZ-JEGHERS SYNDROME AND CANCER:

Weblink to Cancer.Net PJS PagesCancer.Net
Direct link to the Peutz-Jeghers Syndrome page at Cancer.Net. Very useful collection of resources and detailed information for patients with PJS, cancer, and their families


Weblink to Genetic and Rare Diseases Center (GARD)Genetic and Rare Diseases Center (GARD)
Supported by the NIH, this website has great resources for a huge range of genetic and rare diseases. The above link is to their PJS resource. A link to the main GARD site is provided below as well.


Weblink to Genetics Home ReferenceGenetics Home Reference
Extensive resource about rare and genetic and genetic diseases. The above link leads to their excellent PJS pages. A link to the main site is provided below as well.


INFORMATION ABOUT GENETICS AND GENETIC TESTING:

Weblink to Genetics Home Reference Genetics Home Reference
Consumer-friendly information about the effects of genetic variations on human health. Federally-supported resources, include reviews of more than 800 genetic diseases and more than 1000 genes.


Weblink to Learning Resources from the NHGRILearning Resources from the NHGRI
Lots of very good resources from the NHGRI, including major sections about The Human Genome Project, Facts Sheets, and educational resources for teachers and students.


Weblink to National Society of Genetic CounselorsFind a Genetic Counselor
The National Society of Genetic Counselors have a searchable database of genetic counselors. Their website also includes some education materials for patients and healthcare professionals.


Weblink to NHGRI Talking GlossaryNHGRI Talking Glossary
Talking glossary of genetic terms developed by the National Human Genome Research Institute. A huge range of definitions is provided by researchers from around the world.


Weblink to Help Me Understand GeneticsHelp Me Understand Genetics
Help Me Understand Genetics is a handbook from the National Institutes of Health that contain useful information about genetics in clear language and provides links to even more online resources. The entire handbook can also be downloaded as a pdf.


Weblink to the Genetic and Rare Diseases Information CenterGenetic and Rare Diseases Information Center (GARD)
A joint project from The Office of Rare Diseases Research (ORDR) and the National Human Genome Research Institute (NHGRI) that provides searchable information about genetic conditions and rare diseases. It also includes a list of FDA-Approved drugs and other medical products for treating rare disease.


Weblink to NORDNational Organization for Rare Disorders - Resources for Parents/Families
The National Organization for Rare Disorders (NORD) is a volunteer organization dedicated to empowering the rare disease community. Again, they have some very nice web resources.


Weblink to ELSIEthical, Legal and Social Implications Research Program
The ELSI Research Program supports examinations and investigations of the ethical, legal and social implications of genetics research.


Weblink to GINAGenetic Information Nondiscrimination Act of 2008
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a new federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health.


Weblink to Learn.GeneticsLearn.Genetics, University of Utah
Excellent resources, especially for those involved in education. Includes a catalog of animations, videos, interactive features, and virtual labs.


Weblink to the Dolan DNA Learning CenterDolan DNA Leaning Center
The DNALC provides genetics learning resources for teachers and students.


INFORMATION FOR RESEARCHERS:

Weblink to the ClinVar ACMG recommendations pageClinVar: ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing
Clinvar's dedicated ACMG page - a useful jumping-off point to the Genetic Testing Registry, OMIM, MedGen, and local ClinVar pages for each gene.


Weblink to GeneReviews Peutz-Jeghers Syndrome pageGeneReviews
TJ McGarrity et al. GeneReviews: Peutz-Jeghers Syndrome (updated July, 2013).


About

What is the purpose of this information?
Our aim is to provide information about why we do genetic testing. We try to answer some common questions and offer guidance on some personal and practical issues. This information is for anybody with questions about genetic testing for any of the diseases and drugs listed in this site.

Are there geographical differences in testing, service or treatment?
Different centers have different policies in terms of how tests are administered and results shared. However, the results discussed in this document should be relevant to most individuals tested for risk of developing genetic disease.

How is this paid for?
If you received this test as part of the eMERGE research study, neither you nor your insurance company will have to pay anything toward this test

When was this content last updated?
June 30, 2016.

More Questions? The National Society of Genetic Counselors has developed a directory to help locate genetic counseling services near you.
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