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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/.../ 001/1322150x150.jpg • www.edu.rcsed.ac.uk • Pasternak, Jack J. Human Molecular Genetics. 2nd edition. 2005.
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