Update for Peutz-Jegher Syndrome

A recent case series provides some useful insight into this rare condition (JPGN 2013; 56: 191-95).  Peutz-Jegher syndrome (JPS) has an incidence between 1 in 8500 to 1 in 120,000.  It is caused by a germline mutation in the STK11 gene.  It is associated with a serine threonine kinase that functions as a tumor suppressor.

14 children were identified through a medical records review at the Children’s Hospital Colorado between 2000-2011.  Inclusion required 2 or more of the following criteria:

  • 2 or more characteristic hamartomatous polyps of the small intestine
  • typical mucocutaneous pigmentation
  • positive family history (absent in about 25% of cases historically)

Results: Median age at first clinical evaluation was 4.5 years.  Intussusception was noted 7 times in 5 children (ages 5 to 16 years). Surgical reduction was required in 5 of the events. Polyps were found in the stomach/duodenum in 5 (36%), small bowel in 7 (50%), and colon in 3 (21%). Sertoli cell tumors was identified in 2 of the 10 boys at ages 8 years and 11 years.

Based on their experience, the authors suggest the following:

  • Initial screening start at age 4-5 years of age.  They recommend capsule endoscopy, upper endoscopy, and colonoscopy (CE/EGD/colon) as initial screen.  Then, they suggest repeating every 1-2 years until no polyps and then every 2-3 years.
  • In boys, they recommend breast exams for gynecomastia and testicular exams annually to screen for Sertoli cell tumor.  In girls, monitoring for precocious puberty and if present, then further evaluation for Sertoli cell tumor.

Given the small size of their cohort and the likelihood that asymptomatic children may not have been seen, it is too early to know if the approach recommended by the authors is justified.  Will earlier screening result in any long-term benefit &/or reduce complications related to JPS?