Peutz-Jeghers Syndrome

Chad Manning

Background

• Autosomal dominant

• 1/25000 affected worldwide

• 70% familial cases 50% sporadic cases mutated in the STK11 gene

• 16p13.3 encoding for serine/threonine kinase 11

• Relationship is unknown

Clinical Features

• Benign growths (polyps) in small intestine (stomach/bowel)

• Abdominal pain and internal bleeding

• Breast, testicular, pancreatic cancers

• Dark-brown or dark-blue spots on lips, gums, inside mouth, around mouth, eyes, nostrils (mucocutaneous macules)

Diagnosis

• Gastrointestinal polyps and pigmented spots

• X-irradiation of abdomen or endoscopy detects polyps

• Polyps have distinct shape and histological composition

• DNA test available for asymptomatic individuals

Treatment

• Polyps removed surgically

• Electrocautery snare

• Exams for cancer and treatment

References

• www.netterimages.com/.../ 001/1322-150x150.jpg

• www.edu.rcsed.ac.uk

• Pasternak, Jack J. Human Molecular Genetics. 2nd edition. 2005.