Peutz-Jeghers syndrome: case reports and update on diagnosis and treatment.

OBJECTIVE

To analyze the etiology and diagnostic methods of Peutz-Jeghers syndrome (PJS) and thus establish a treatment strategy.

METHODS

Clinical data from six patients with PJS were evaluated from the aspect of familial history, carcinogenesis and recurrence of polyps.

RESULTS

The fathers of four and the mother of one of the six patients had PJS. The grandfather of three of the six patients had PJS. There was a history of cancer in three of the five families. Case 4 underwent two laparotomies for intussusceptions caused by recurrent polyps of the small intestine. Case 5 also had recurrent small intestinal polyps and required a laparotomy after 1 year of initial treatment. Polyps in cases 1 and 4 showed adenomatous changes and those in case 2 were associated with gastric cancer.

CONCLUSIONS

Patients with PJS have a strong family history of cancer and a high incidence of recurrence of small intestinal polyps. Malignant changes of polyps may follow the hamartoma-adenoma-carcinoma sequence. Careful follow-up is mandatory for gastrointestinal tract symptoms, and other solid organs that are susceptible to malignant change.