Peutz–Jeghers syndrome

Peutz–Jeghers syndrome is an inherited disorder marked by hamartomatous gastrointestinal polyps, characteristic dark pigmentation of the skin and mucous membranes, and increased cancer risk.

STK11: STK11 is a tumor-suppressor gene that encodes the serine/threonine kinase LKB1. Germline pathogenic variants in STK11 cause Peutz–Jeghers syndrome.
Cancer surveillance: Cancer surveillance uses scheduled examinations or tests to detect malignancy or precancerous change in people at elevated risk. People with Peutz–Jeghers syndrome need surveillance across multiple organs.
Gastrointestinal polyp: A gastrointestinal polyp is a growth projecting from the lining of the digestive tract. Peutz–Jeghers syndrome is identified in part by its distinctive gastrointestinal polyps.
Familial adenomatous polyposis: Familial adenomatous polyposis is an inherited APC-associated disorder causing numerous colorectal adenomas and high colorectal cancer risk. Unlike Peutz–Jeghers syndrome, it produces adenomatous rather than hamartomatous polyps.
LKB1: LKB1 is a serine/threonine kinase that regulates cell polarity, metabolism, and growth signaling. Loss of LKB1 function helps explain abnormal tissue growth in the syndrome.
Small-bowel intussusception: Small-bowel intussusception occurs when one segment of small intestine telescopes into an adjacent segment. Large Peutz–Jeghers polyps can act as lead points and cause obstruction.
Mucocutaneous lentiginosis: Mucocutaneous lentiginosis is the development of multiple small, dark macules on skin and mucosal surfaces. This pigmentation pattern is a hallmark clinical feature of the syndrome.
Juvenile polyposis syndrome: Juvenile polyposis syndrome is an inherited disorder characterized by multiple juvenile-type gastrointestinal hamartomatous polyps. Both involve hamartomatous polyps, but juvenile polyposis lacks the characteristic pigmentation pattern.
Hamartoma: A hamartoma is a benign, disorganized overgrowth of mature cells native to a tissue. The syndrome’s characteristic polyps are hamartomatous growths.
Capsule endoscopy: Capsule endoscopy uses a swallowed camera to image the gastrointestinal tract, especially the small bowel. It can locate small-bowel polyps that conventional endoscopy may not reach.

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