Peutz-Jeghers is an autosomal dominant genetic disease. more...
The three main criteria for diagnosis are:
- Family history
- Mucocutaneous lesions on the lips
- Hamartomatous polyps in the gastrointestinal tract. These are benign polyps with a low potential for malignancy.
Having 2 of the 3 listed criteria indicates a positive diagnosis. Definitive diagnosis requires a histological sample of a polyp.
In 1998, a gene was found to be associated with the mutation. On chromosome 19, the gene known as STK11/LKB1 is a possible tumor suppressor gene.
The risks associated with this syndrome include increased chance of developing cancer in multiple sites especially in the gastrointestinal tract. Other areas include the pancreas, liver, lungs, breast, ovaries, and testicles.
The average age of first diagnosis is 23, but the lesions can be identified at birth by an astute pediatrician. Prior to puberty, the mucocutaneous lesions can be found on the palms and soles. Often the first presentation is as a bowel obstruction from an intussusception; an intussusception is a telescoping of one loop of bowel into another segment.
Most of the data regarding this disorder are from selected family lines and thus the risks endured by those families regarding outcomes may not translate completely to the patient without a familial history.
Screening for cancers include upper GI endoscopy, enteroclysis, colonoscopy, endoscopic ultrasound, testicular ultrasound.
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