When is Peutz-Jeghers syndrome diagnosed?
Diagnosis and Tests A diagnosis of Peutz-Jeghers syndrome (PJS) is considered in anyone with: Two or more Peutz-Jeghers polyps. Any number of Peutz-Jeghers polyps with a family history of PJS. Characteristic dark-colored spots with a family history of PJS.
What is Peutz-Jeghers syndrome PJS?
Peutz-Jeghers syndrome (PJS) is an inherited condition that puts people at an increased risk for developing hamartomatous polyps in the digestive tract, as well as cancers of the breast, colon and rectum, pancreas, stomach, testicles, ovaries, lung, cervix, and other types listed below.
Is Peutz-Jeghers syndrome premalignant?
The polyps are not premalignant, but a definite association exists between Peutz-Jeghers syndrome and gastrointestinal carcinoma. Evidence shows that the syndrome is associated with an increased risk of extraintestinal malignancy, especially carcinomas of the pancreas, breast, and reproductive organs.
How common is Peutz-Jeghers syndrome?
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 of PJS is estimated to be between 1/50,000 and 1/200,000.
What causes Peutz-Jeghers?
Mutations in the STK11 gene (also known as LKB1) cause most cases of Peutz-Jeghers syndrome. The STK11 gene is a tumor suppressor gene, which means that it normally prevents cells from growing and dividing too rapidly or in an uncontrolled way .
Are juvenile polyps premalignant?
In contrast to other types of colon polyps, juvenile polyps are not premalignant and are not usually associated with a higher risk of cancer; however, individuals with juvenile polyposis syndrome are at increased risk of gastric and colorectal cancer.
Is Peutz-Jeghers Syndrome life threatening?
Peutz-Jeghers syndrome (PJS) is a rare, but life-threatening, familial inherited disease, characterized by mucocutaneous pigmentation and hamartomatous polyps. The estimated incidence of PJS ranges from 1/50,000 to 1/200,000.
Is juvenile polyp common?
Juvenile polyps occur in about 2 percent of children. In contrast to other types of colon polyps, juvenile polyps are not premalignant and are not usually associated with a higher risk of cancer; however, individuals with juvenile polyposis syndrome are at increased risk of gastric and colorectal cancer.
What is the drug of choice for polyps in Peutz Jeghers syndrome?
Polyps present in Peutz Jeghers syndrome overexpress and enzyme called COX2. A drug called celecoxib, which is a COX2 inhibitor, has been showed to reduce the number of polyps in mice models of PJS and might be helpful in humans to reduce polyp burden.
What are the diagnostic criteria for Peutz Jeghers syndrome (PJs)?
A clinical diagnosis of Peutz Jeghers syndrome can be made when any one of the following criteria is present: Any number of PJS polyps and at least one close relative diagnosed with PJS Characteristic dark pigmented spots (melanocytic macules) and at least one close relative diagnosed with PJS
What are Peutz-Jeghers-type hamartomatous polyps?
Peutz-Jeghers-type hamartomatous polyps are most common in the small intestine (in order of prevalence: in the jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters.
What are the variants of Peutz-Jeghers syndrome (STK11)?
More than 300 STK11 pathogenic variants have been reported in persons with Peutz-Jeghers syndrome. All types of variants have been reported, from missense variants to whole- gene deletion. Mechanism of disease causation. Loss of function Non-small cell lung cancer.