Peutz Jeghers Syndrome (PJS) is a rare disease of autosomal dominant inheritance that is characterised by hamartomatous polyps throughout the gastrointestinal tract and pigmentation (freckles) of the lips and skin. It has a prevalence of around 1 in 200 000 births.
Diagnosis requires one of the following:
- 2 or more hamartomatous polyps in the gastrointestinal tract; or
- 1 hamartomatous polyp together with a family history of PJS’ or
- classical pigmentation of the lips or skin.
The polyps are hamartomas and are typically very large and pedunculated with a lobulated appearance. They most commonly occur in the small bowel (jejunum most common followed by ileum) but can also occur in the stomach, colon. Occasionally they occur in the bladder and lungs.
PJS carries an increased risk of both gastrointestinal and non-gastrointestinal tumours. The rarity of this condition makes it difficult to estimate the exact cancer risk. Those with the STK11/LKB1 mutation have four times the population risk of developing a cancer at any site (described above) .
The commonest site for cancer is the gastrointestinal tract (gastroesophageal, small bowel, colorectal, pancreatic) with colorectal cancers the most common. The risk of a colorectal cancer by age 70 is 40%, breast cancer 55%, pancreatic cancer 35%, stomach cancer 30%, and ovarian cancer 20% .
- Hearle N, Schumacher V, Menko F et al. Frequency and spectrum of cancers in the Puetz Jeghers syndrome. Clin.
- Giardiello F, Brensinger J, Tersmette A et al. Very high risk of cancer in familial Puetz Jeghers syndrome. Gastroenterology 2000; 119: 1447-453Cancer Res 2006; 12: 3209-215.