Peutz-Jeghers Syndrome

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Presentation transcript:

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.