Genetic alternation in Peutz-Jeghers Syndrome (PJS) and its Diagnostic Method

Abstract

Peutz-Jegers Syndrome (PJS) autosomal dominant disorder characterized by melanin spots, colon polyps and increased risk of cancer, especially due to mucosal skin pigmentation of the red edges of the lips, and gastrointestinal hematogenous polyposis. PJS was first reported in 1895. PJS can caused with or without mutation. Polyps have also been seen in the ureter, airway body system, and gastrointestinal system. The most common location is jejunum. DBE is an enteroscopy technique that enables the evaluation and treatment of the small bowel. Cancers of the colon, stomach, small intestine, pancreas, breast, and other organs are more common in PJS patients. PJS has a strong link with several malignancies like adenoma malignum (ADM) and a rare ovary tumor called sex cord tumor with annular tubules (SCTATs) in female PJS patients. Key words: Peutz-Jeghers Syndrome; intraoperative enteroscopy; dual-balloon enteroscopy