Peutz Jeghers Syndrome

Peutz Jeghers Syndrome

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Peutz Jeghers Syndrome is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • PJS
  • Polyposis, Hamartomatous Intestinal
  • Polyps and Spots Syndrome

Disorder Subdivisions

  • None

General Discussion

Peutz Jeghers syndrome (PJS) is an autosomal dominant genetic condition characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine. Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth. Affected individuals have an increased risk for intestinal and other cancers.

Symptoms

PJS is characterized by multiple benign polyps called hamartomas on the mucous lining in the gastrointestinal system. These polyps occur most often in the small intestine but also occur in the stomach and large intestine and may cause chronic rectal bleeding, anemia and bowel collapse or obstruction.



Affected individuals also have dark skin discoloration, especially around the eyes, nostrils, mucous membranes of the mouth, perianal area and inside the mouth and on the fingers. Hyperpigmentation may fade in adolescent or adulthood.



Affected females have an increased risk for a benign ovarian tumor called SCTAT (sex cord tumors with annular tumors) for which symptoms may include irregular or heavy periods or early puberty. Affected males can develop a tumor in the testes that secretes estrogen and can lead to breast development (gynecomastia). Individuals with PJS have an increased risk for intestinal and other cancers.

Causes

Peutz-Jeghers syndrome is an autosomal dominant genetic condition. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. Approximately 50% of individuals with PJS have an affected parent. Approximately 70% of affected individuals with a family history of PJS have a mutation in the STK11/LKB1 gene, whereas 20-70% of affected individuals without family history have a mutation in this gene. The risk of passing the abnormal gene from affected parent to offspring is 50% for each pregnancy. If a mutation has not been found and there is no family history, the risk to offspring is unknown.

Affected Populations

Peutz Jeghers syndrome is a rare disorder that affects males and females in equal numbers and can occur in any racial or ethnic group. The birth prevalence for PJS is estimated to be between 1/25,000 and 1/280,000.

Standard Therapies

Diagnosis

PJS is diagnosed based on the presence of polyps in the GI tract in combination with at least two of the following: polyps in the small intestine, melanin spots and/or a family history of PJS. Molecular genetic testing for the STK11/LKB1 gene is available to confirm the diagnosis. Individuals with PJS may consider genetic testing for their children in order to determine if monitoring for polyps is indicated.



Treatment

Regular examinations help to prevent intestinal obstruction and cancer. Visualization of the interior walls of the intestines (endoscopy) is recommended and large (>1 cm) polyps should be removed during the procedure. The age to begin screening and the frequency of examinations depend on family history and symptoms. Periodic x-rays or endoscopy should be done beginning in adolescence and throughout adulthood. At-risk women should begin clinical breast examination and mammography beginning in the twenties. At-risk men should routinely conduct a testicular examination.



Genetic counseling is recommended for individuals with PJS and their family members.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the National Institutes of Health (NIH) in Bethesda, MD, contact the NIH Patient Recruitment Office:



Tollfree: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, contact:

www.centerwatch.com

References

TEXTBOOKS

Burke, C. Peutz-Jeghers Syndrome. In: The NORD Guide to Rare Disorders, Philadelphia: Lippincott, Williams and Wilkins, 2003:351-2.



JOURNAL ARTICLES

Amos CI, Keitheri-Cheteri MB, Sabripour M, et al. Genotype-phenotype correlations in Peutz-Jeghers syndrome. J Med Genet 2004;41:327-33.



Boardman LA. Heritable colorectal cancer syndromes: recognition and preventive management. Gastroenterol Clin North Am. 2002;31:1107-31.



Giardiello FM, Brensinger JD, Tersmette AC, et al. Very high risk of cancer in familial Peutz-Jeghers syndrome. Gstroenterology. 2000;119:1447-53.



Lim W, Hearle N, Shah B, et al. Further observations on LKB1/STK11 status and cancer risk in Peutz-Jeghers syndrome. Br J Cancer. 2003;89:308-13.



McGarrity TJ, Kulin HE, and Zaino RJ. Peutz-Jeghers syndrome. Am J Gastroenterol. 2000;95:596-604.



FROM THE INTERNET

Amos CI, Frazier ML and Mcgarrity TJ. Updated 5/19/04. Peutz-Jeghers Syndrome. In: GeneReviews at Genetests: Medical Genetics Information Resource (database online). Copyright, University of Washington, Seattle. 1997-2006. Available at http://www.genetests.org. Accessed 11/06.



McKusick VA, ed. Online Mendelian Inheritance in Man (OMIM). Baltimore, MD: The Johns Hopkins University; Entry #175200; Last Update: 8/4/05.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



American Cancer Society, Inc.

250 Williams NW St

Ste 6000

Atlanta, GA 30303

USA

Tel: (404)320-3333

Tel: (800)227-2345

TDD: (866)228-4327

Internet: http://www.cancer.org



NIH/National Institute of Diabetes, Digestive & Kidney Diseases

Office of Communications & Public Liaison

Bldg 31, Rm 9A06

31 Center Drive, MSC 2560

Bethesda, MD 20892-2560

Tel: (301)496-3583

Email: NDDIC@info.niddk.nih.gov

Internet: http://www2.niddk.nih.gov/



OncoLink: The University of Pennsylvania Cancer Center Resource

3400 Spruce Street

2 Donner

Philadelphia, PA 19104-4283

USA

Tel: (215)349-8895

Fax: (215)349-5445

Email: hampshire@uphs.upenn.edu

Internet: http://www.oncolink.upenn.edu



Peutz Jeghers Syndrome Online Support Group

Email: pj4steph@aol.com

Internet: http://www.acor.org/



Rare Cancer Alliance

1649 North Pacana Way

Green Valley, AZ 85614

USA

Internet: http://www.rare-cancer.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



Cancer.Net

American Society of Clinical Oncology

2318 Mill Road Suite 800

Alexandria, VA 22314

Tel: (571)483-1780

Fax: (571)366-9537

Tel: (888)651-3038

Email: contactus@cancer.net

Internet: http://www.cancer.net/



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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