American Board of Internal Medicine (ABIM) Certification Practice Exam

What genetic condition is characterized by hamartomatous polyps?

1. Familial adenomatous polyposis

2. Peutz-Jeghers syndrome

3. Lynch syndrome

4. Hereditary nonpolyposis colorectal cancer

The correct answer is: Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is the genetic condition characterized by the presence of hamartomatous polyps, which are tumor-like growths that are benign and consist of an abnormal mixture of tissue types. This syndrome is caused by mutations in the STK11 gene and is associated with a variety of gastrointestinal polyps, particularly in the small intestine, along with other risks such as mucocutaneous pigmentation and a predisposition to certain types of cancer. The polyps in Peutz-Jeghers syndrome are distinct from those in familial adenomatous polyposis, which involves a different type of polyp known as adenomatous polyps that are precursors to colorectal cancer. Additionally, Lynch syndrome and hereditary nonpolyposis colorectal cancer primarily relate to an increased risk of colorectal and other cancers without the characteristic hamartomatous polyps seen in Peutz-Jeghers syndrome. Thus, the unique association of hamartomatous polyps with Peutz-Jeghers syndrome solidifies its distinction in this context.