What are the NCCN guidelines on genetic/familial high-risk assessment of colorectal syndromes in Peutz-Jeghers syndrome (PJS)?

Updated: Oct 11, 2018
  • Author: Buu Anh T To, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
  • Print
Answer

Answer

The National Comprehensive Cancer Network (NCCN) updated their guidelines for assessment of genetic/familial high-risk colorectal syndromes (nonpolyposis and polyposis), including Peutz-Jeghers syndrome (PJS), in July 2018. [116]  Their recommendations align with those of the 2015 American College of Gastroenterology (ACG) on genetic testing and management of hereditary gastrointestinal cancer syndromes. [15]

Diagnosis

Two or more of the following features must be present for the clinical diagnosis of Peutz-Jeghers syndrome: at least two Peutz-Jeghers-type hamartomatous polyps of the gastrointestinal (GI) tract; mucocutaneous hyperpigmentation affecting the eyes, nose, mouth/lips, fingers, or genitals; a family history of Peutz-Jeghers syndrome.

Surveillance

Clinical genetic testing is available to test for mutations in the STK11 (LKB1) gene, which causes most cases of Peutz-Jeghers syndrome.

The NCCN recommends referrals to expert teams and encourages patient participation in clinical trials.

The following are recommendations regarding approximate ages for initiation of surveillance in asymptomatic patients. Perform a thorough evaluation for any early symptoms.

  • Breast cancer: About age 25 years
  • Colon or stomach cancer: In the late teens
  • Small intestinal cancer: About age 8-10 years
  • Pancreatic cancer: About age 30-35 years, or 10 years younger than the earliest age of familial onset
  • Ovarian/cervical/uterine cancer: About age 18-20 years
  • Testicular (sex cord/Sertoli cell tumors): About age 10 years

Did this answer your question?
Additional feedback? (Optional)
Thank you for your feedback!