Peutz Jeghers syndrome

background

Peutz Jeghers syndrome (PJS) is a rare genetic condition marked by the development of multiple noncancerous polyps, or small growths, on the lining of the gastrointestinal tract. These polyps, called hamartomas, occur most frequently in the small intestine but are also found in the stomach and large intestine. Other symptoms of PJS include discoloration of the skin around the eyes, nose, mouth, anus, hands, and feet. People with PJS are at increased risk of developing intestinal and other cancers. The average age of diagnosis is 23 years. However, symptoms can be identified at birth.
It is believed that PJS is caused by mutations or defects in the serine/threonine kinase 11 gene (STK11 or STK11/LKB1), which plays a role in the suppression of tumor growth. The STK11 gene provides instructions for making the STK11 protein. The signaling pathway of the STK11 gene product has not yet been identified. Being a tumor suppressor gene means that the overexpression of STK11 may result in cell growth arrest. When the gene is mutated, the structure or function of the STK11 protein is altered or impaired. In some individuals with PJS, the STK11 gene is not mutated. In these individuals, the cause of the disease is unknown.
About half of PJS cases are inherited, or passed down among family members. In the other half, individuals have no family history of the disorder. These cases result from a spontaneous genetic mutation in the egg, sperm cells, or developing embryo.
The exact prevalence of PJS is unknown, but it is estimated to occur in about 1 in 25,000-300,000 births in the United States. The international prevalence of PJS (outside of the United States) is unknown. PJS does not appear to affect one sex or ethnicity more than another.
About half of those with PJS die of cancer-related complications by age 60. Other individuals with PJS may have a normal life expectancy. Given that PJS is a genetic disorder, there is no cure. Treatment aims to reduce symptoms and prevent complications.

Related Terms

Cancer of the gastrointestinal tract, gastrointestinal polyps, GI polyps, gynecomastia, hamartomas, hereditary intestinal polyposis syndrome, Hutchinson Weber-Peutz syndrome, intestinal cancer, intestinal hamartomatous polyps in association with mucocutaneous melanocytic macules, intestinal lesions, intestinal polyposis-cutaneous pigmentation syndrome, intestinal polyps, mucocutaneous melanocytic macules, periorificial lentiginosis syndrome, Peutz-Jeghers polyposis, PJS, polyposis hamartomatous intestinal, polyposis intestinal II, polyps and spots syndrome, polyps-and-spots syndrome, serine/threonine kinase 11 gene, Sertoli cell tumors, STK11 gene mutation, STK11/LKB1 gene mutation, tumor suppressor gene.