IllnessPeutz-Jeghers syndrome

NGS +

Peutz-Jeghers syndrome is characterized by hamartomatous polyps in the gastrointestinal tract (especially in the stomach and intestines) and by increased risks for developing certain cancers. Children with Peutz-Jeghers syndrome often develop small, dark-colored spots on the lips and mouth, near the eyes/nostrils, perianally as well as on the hands and feet. Most patients with Peutz-Jeghers syndrome have multiple polyps in the stomach and intestines already during childhood or adolescence. Cancers of the intestinal tract, pancreas, cervix, ovaries and breast are not uncommon. Almost all Peutz-Jeghers cases are caused by mutations in the tumor suppressor gene STK11. Half of these cases are inherited in an autosomal dominant manner, and the other half are caused by de novo mutations. A negative molecular genetic result does not completely exclude the clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1266/

• Alias: Hamartomatous intestinal polyposis
• Alias: Polyposis, hamartomatous intestinal
• Alias: Polyps-and-spots syndrome
• Allelic: Melanoma, malignant
• Allelic: Pancreatic cancer, somatic
• Allelic: Testicular tumor, somatic