PeutzJeghers Syndrome

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Peutz-Jeghers Syndrome

• Chad Manning

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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

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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)

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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

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Treatment

• Polyps removed surgically
• Electrocautery snare
• Exams for cancer and treatment

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References

• www.netterimages.com/.../ 001/1322-150x150.jpg
• www.edu.rcsed.ac.uk
• Pasternak, Jack J. Human Molecular Genetics. 2nd
  edition. 2005.