Courtesy of Dr Bhatia, Medical Coaching Institutes
Peutz-Jeghers Syndrome (PJS) is caused by mutations in the STK11 gene and is characterized by polyp growth in the gastrointestinal tract and freckles around the mouth, eyes, nostrils, fingers, and anus.
In particular, the type of polyps associated with PJS are hamartomatous polyps. They most often grow in the small intestine, but are also found in the stomach and large intestine (colon). These polyps can cause complications including abdominal pain, vomiting, and rectal bleeding. Most notably, the polyps can cause an intussusception, which is when the intestine folds in on itself. This results in severe pain, and may be the first symptom of PJS for an individual. These polyp-related symptoms often appear by age 30, and many individuals are diagnosed in adolescence. Due to the young age at which polyps can form, it is appropriate for children to be tested for PJS so that they may begin colonoscopy/upper endoscopy screening to avoid polyp-related complications. In addition to the association with gastrointestinal cancer, PJS is also linked to female breast cancer, gynecological cancers, lung cancer, and a specific type of testicular tumor called a sertoli cell tumor. It is currently recommended that adults with PJS begin undergoing colonoscopy and upper endoscopy at age 18. In addition, annual pancreas imaging and mammograms with breast MRI should begin around age 30. PJS is a rare condition, and its prevalence is still uncertain. It is estimated to affect between 1 in 25,000 and 1 in 300,000 individuals. PJS is inherited in an autosomal dominant pattern and only one mutated copy of a gene is necessary to increase the risk for polyps and cancer. A small percentage (6-20%) of people who have been diagnosed with PJS do not have a STK11 mutation; it is possible that there are other genes that cause PJS that have not yet been identified. Not all individuals with PJS will have a family history of the condition, so PJS should be considered when an individual is found to have freckling around the mouth or experiences an intussusception, even if no one in the family has been previously diagnosed with PJS. Take a look at these links below to learn more about Peutz-Jeghers Syndrome:
National Organization for Rare Disorders (NORD): https://rarediseases.org/rare-diseases/peutz-jeghers-syndrome/ Genetic and Rare Diseases Information Center:
FORCE (Facing Hereditary Cancer Empowered): https://www.facingourrisk.org/
InSiGHT (International Society for Gastrointestinal Hereditary Tumours): https://www.insight-group.org/
To find an inherited GI Cancer Genetics Clinic near you, check out the “Find a Clinic” page on the CGA-IGC website: https://www.cgaigc.com/find-a-clinic
