PJS is a rare hereditary disease, and clinical features were pigmented spots on the lips and oral mucosa with gastrointestinal tract polyposis. Early resection of the bowel polyps in PJS patients will prolong survival time, detect causative gene of PJS family members contribute to early diagnosis and early prediction of cancer risk.
References
[1]
S. Aretz, D. Stienen, S. Uhlhaas, et al. High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome. Human Mutation, 2005, 26(6): 513-519.