What is the Peutz-Jeghers syndrome?
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.
What are the components of Peutz-Jeghers syndrome?
Peutz–Jeghers syndrome (often abbreviated PJS) is an autosomal dominant genetic disorder characterized by the development of benign hamartomatous polyps in the gastrointestinal tract and hyperpigmented macules on the lips and oral mucosa (melanosis).
How do you know if you have Peutz-Jeghers syndrome?
Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips , around and inside the mouth , near the eyes and nostrils, and around the anus. These spots may also occur on the hands and feet. They appear during childhood and often fade as the person gets older.
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.
Is STK11 a tumor suppressor?
The STK11 gene (also called LKB1) provides instructions for making an enzyme called serine/threonine kinase 11. This enzyme is a tumor suppressor, which means that it helps keep cells from growing and dividing too fast or in an uncontrolled way.
Is Lynch syndrome autosomal dominant?
Normally, every cell has 2 copies of each gene: 1 inherited from the mother and 1 inherited from the father. Lynch syndrome follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only 1 copy of the gene for the person to have an increased risk of getting that disease.
What are the symptoms of Peutz Jeghers syndrome?
Peutz-Jeghers syndrome is characterized by the development of noncancerous growths called hamartomatous polyps in the gastrointestinal tract (particularly the stomach and intestines) and a greatly increased risk of developing certain types of cancer. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips,
When do the macules fade in Peutz Jeghers syndrome?
The macules may fade in puberty and adulthood. Individuals with Peutz-Jeghers syndrome are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers).
How is genetic testing done for Peutz Jeghers?
Genetic counseling and genetic testing should be offered to anyone that meets these criteria. Genetic testing is done through a blood sample. Nearly all patients with PJS will have a change (mutation) in the STK11/LKB1 gene. Once a mutation is identified, the patient’s family members can be tested for that mutation.
Can a person with Peutz Jeghers syndrome have STK11 mutations?
A small percentage of people with Peutz-Jeghers syndrome do not have mutations in the STK11 gene. In these cases, the cause of the disorder is unknown.