Peutz-Jeghers syndrome

Title

Other Names:

Polyposis, hamartomatous intestinal; PJS; Polyps-and-spots syndrome; Polyposis, hamartomatous intestinal; PJS; Polyps-and-spots syndrome; Peutz Jeghers polyposis; Periorificial lentiginosis syndrome; Lentiginosis, perioral See More

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Congenital and Genetic Diseases; Digestive Diseases; Eye diseases; Rare Cancers; Skin Diseases See More

Summary Summary

Peutz-Jeghers syndrome (PJS) is an inherited condition that is associated with an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). PJS is caused by changes (mutations) in the STK11 gene and is inherited in an autosomal dominant manner.^[1]^[2] Management typically includes high-risk screening for associated polyps and cancers.^[3]

Last updated: 3/15/2015

Symptoms Symptoms

Peutz-Jeghers syndrome (PJS) is characterized primarily by an increased risk of growths along the lining of the gastrointestinal tract (called hamartomatous polyps) and certain types of cancer. Polyps are most commonly seen in the small intestines; however, they can also develop in the stomach, large intestines and other parts of the body such as the lungs, gall bladder, nose, and urinary bladder. Although these polyps are generally benign (noncancerous), they can be associated with many health problems including anemia, chronic bleeding, bowel obstruction, and intussusception. PJS-related polyps commonly present in adolescence or early adulthood with approximately a third of affected people experiencing symptoms in the first 10 years of life.^[1]^[2]

People with PJS also have a high lifetime risk of developing cancer. Cancers of the gastrointestinal tract (stomach, small intestine, and colon), breast, pancreas, cervix, ovary, uterus and lungs are among the most commonly reported tumors.^[1]^[2] Medscape reference offers more specific information regarding the risks for these cancers and the average age of onset. Please click here to view this resource.

Most affected people also have characteristic dark blue to dark brown macules around the mouth, eyes, and nostrils; near the anus (perianal); and on the inside of the cheeks (buccal mucosa). These spots may also occur on the hands and feet. They commonly appear during childhood and often fade as the person gets older.^[1]^[2]

Last updated: 3/15/2015

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms	Other Names	Learn More: HPO ID
80%-99% of people have these symptoms
Abnormal pigmentation of the oral mucosa		0100669
Gastrointestinal carcinoma		0002672
Multiple lentigines		0001003
30%-79% of people have these symptoms
Gastrointestinal hemorrhage	Gastrointestinal bleeding	0002239
5%-29% of people have these symptoms
Abdominal pain	Pain in stomach Stomach pain [ more ]	0002027
Abnormality of the gallbladder		0005264
Abnormality of the ureter		0000069
Anemia	Low number of red blood cells or hemoglobin	0001903
Biliary tract neoplasm		0100574
Breast carcinoma	Breast cancer	0003002
Cervix cancer		0030079
Enlarged polycystic ovaries	Enlarged ovaries with cysts	0008675
Esophageal neoplasm	Esophageal tumor	0100751
Gastrointestinal infarctions	Death of digestive organ tissue due to poor blood supply	0005244
Intestinal obstruction	Bowel obstruction Intestinal blockage [ more ]	0005214
Melanonychia		0100644
Multiple renal cysts	Multiple kidney cysts	0005562
Nasal polyposis		0100582
Neoplasm of the colon	Colon tumor	0100273
Neoplasm of the lung	Lung tumor	0100526
Neoplasm of the nose	Nasal tumor Nose cancer Tumor of the nose [ more ]	0012720
Neoplasm of the rectum	Rectal tumor	0100743
Neoplasm of the small intestine	Small intestine tumor	0100833
Pancreatic adenocarcinoma		0006725
Rectal prolapse	Rectum protrudes through anus	0002035
Renal cell carcinoma	Cancer starting in small tubes in kidneys	0005584
Stomach cancer		0012126
Vomiting	Throwing up	0002013
Percent of people who have these symptoms is not available through HPO
Autosomal dominant inheritance		0000006
Biliary tract abnormality		0001080
Bladder polyp		0031261
Clubbing	Clubbing of fingers and toes	0001217
Clubbing of fingers	Clubbed fingers Clubbing (hands) Finger clubbing [ more ]	0100759
Gynecomastia	Enlarged male breast	0000771
Hamartomatous polyposis		0004390
Hypermelanotic macule	Hyperpigmented spots	0001034
Intestinal bleeding		0002584
Intussusception		0002576
Iron deficiency anemia		0001891
Labial melanotic macule		0032454
Neoplasm of the pancreas	Cancer of the pancreas Pancreatic tumor [ more ]	0002894
Oral melanotic macule		0032451
Ovarian cyst		0000138
Precocious puberty with Sertoli cell tumor		0008204
Uterine neoplasm	Uterine tumor	0010784

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 2/1/2021

Do you have updated information on this disease? We want to hear from you.

Cause Cause

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.^[4]

Some people with PJS do not have mutations in the STK11 gene. In these cases, the cause is unknown.^[4]

Last updated: 3/15/2015

Inheritance Inheritance

Peutz-Jeghers syndrome (PJS) is inherited in an autosomal dominant manner.^[1] This means that to be affected, a person only needs a change (mutation) in one copy of the responsible gene in each cell. In some cases, an affected person inherits the mutation from an affected parent. Other cases may result from new (de novo) mutations in the gene. These cases occur in people with no history of the disorder in their family. A person with PJS has a 50% chance with each pregnancy of passing along the altered gene to his or her child.

Last updated: 3/15/2014

Diagnosis Diagnosis

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.^[1]

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

Testing Resources

The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. 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.

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from MedlinePlus Genetics.

Related Diseases Related Diseases

Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.

Conditions with similar signs and symptoms from Orphanet
Differential diagnoses include juvenile polyposis syndrome, hereditary mixed polyposis syndrome, the PTEN hamartoma tumor syndromes, and Carney complex. Visit the Orphanet disease page for more information.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Peutz-Jeghers syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Organizations Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Social Networking Websites

Peutz-Jeghers Syndrome Online Support Group is an online discussion forum where members dealing with Peutz-Jeghers Syndrome can share advice and support with other patients and caregivers.

Organizations Providing General Support

American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
Collaborative Group of the Americas on Inherited Gastrointestinal Cancer (CGA-IGC)
E-mail: https://www.cgaigc.com/contact
Website: http://www.cgaigc.com
Hereditary Colon Cancer Foundation
3519 NE 15th Avenue
Unit 518
Portland, OR 97212
Telephone: +1-334-740-8657
E-mail: info@HCCTakesGuts.org
Website: https://www.hcctakesguts.org/

Do you know of an organization? We want to hear from you.

Learn More Learn More

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

Where to Start

DermNet NZ is an online resource about skin diseases developed by the New Zealand Dermatological Society Incorporated. DermNet NZ provides information about this condition.
MedlinePlus was designed by the National Library of Medicine to help you research your health questions, and it provides more information about this topic.
Genetics Home Reference (GHR) contains information on Peutz-Jeghers syndrome. This website is maintained by the National Library of Medicine.
The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.

In-Depth Information

GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.
Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free.
The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
PubMed is a searchable database of medical literature and lists journal articles that discuss Peutz-Jeghers syndrome. Click on the link to view a sample search on this topic.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know. Submit a new 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. See answer

Have a question? Contact a GARD Information Specialist.

References References

Thomas J McGarrity, MD, Christopher I Amos, PhD, Marsha L Frazier, PhD, and Chongjuan Wei, PhD. Peutz-Jeghers Syndrome. GeneReviews. July 2013; http://www.ncbi.nlm.nih.gov/books/NBK1266/.
Thomas M Attard, MD, FAAP, FACG. Peutz-Jeghers Syndrome. Medscape Reference. December 2014; http://emedicine.medscape.com/article/182006-overview.
Dawn Provenzale, MD, MS. Genetic/Familial High-Risk Assessment: Colorectal. National Comprehensive Cancer Network. February 2014; Accessed 3/15/2015.
Peutz-Jeghers syndrome. Genetics Home Reference. February 2013; http://ghr.nlm.nih.gov/condition/peutz-jeghers-syndrome.