Peutz-Jeghers Syndrome (STK11) and pancreatic cancer

Peutz-Jeghers Syndrome (STK11) and pancreatic cancer

• Peutz-Jeghers syndrome is an autosomal dominant syndrome characterized by melanocytic macules on the lips and buccal mucosa, and hamartomatous polyps of the gastrointestinal tract (1,2,3)
  • Peutz-Jeghers syndrome (PJS) is caused by germline mutations in the STK11 gene (3)
  • in addition to gastrointestinal and breast cancer, patients with the Peutz-Jeghers syndrome have a very high risk of developing pancreatic cancer
  • reported that 80% of STK11 mutation carriers develop cancer by the age of 60 years (1)
  • STK11 gene is located on 19p13.3 (2)
  • reported that patients with the syndrome have a remarkable 132-fold increased risk of developing pancreatic cancer (1)
  • cumulative risk of developing any gastrointestinal cancer is 38-66% at age 70 (3)
  • cumulative risk of developing pancreatic cancer at age 70 in PJS patients is 11-55% (3)

Reference:

• Hruban RH, Canto MI, Goggins M, Schulick R, Klein AP. Update on familial pancreatic cancer. Adv Surg. 2010;44:293-311. doi:10.1016/j.yasu.2010.05.011
• Petersen GM. Familial pancreatic cancer. Semin Oncol. 2016;43(5):548-553. doi:10.1053/j.seminoncol.2016.09.002
• Chen F, Roberts NJ, Klein AP. Inherited pancreatic cancer. Chin Clin Oncol. 2017;6(6):58. doi:10.21037/cco.2017.12.04