Colorectal Cancer: Peutz-Jeghers Syndrome

Patient Identification

Cathy (denoted by arrow on pedigree) is a 40-year-old non-Jewish white woman who came in because her physician suspected a diagnosis of Peutz-Jeghers Syndrome.

Relevant Past Medical History

At age 12, Cathy had an intussusception in her small intestine (small bowel). She has had several small bowel resections, or surgeries, for adhesion removal.
At age 30, she was diagnosed with unilateral breast cancer. She underwent a mastectomy.
She has freckling on her lips and oral mucosa, fingers, and toes that is characteristic of Peutz-Jeghers Syndrome (PJS).
She has a colonoscopy every 5 years and an annual mammogram and clinical breast exam.

Family History

Cathy's father (II:1) was diagnosed with colon cancer at age 63.
Her maternal grandfather (I:1) had leukemia.
Her maternal grandmother (I:2) had pancreatic cancer.
Several family members were noted as having freckles, which is characteristic of PJS.
- Her mother (II:2) has freckles on her lips.
- Her maternal uncle (II:3) had freckles.
- However, Cathy is Irish and says that many of her relatives have freckles; thus, it is difficult to determine whether the freckles are related to PJS.
Cathy presented a picture of her 5-year-old daughter who exhibited freckling spots on her lips that were very obvious. The spots were 6mm darkly pigmented areas, and Cathy said that her own freckles looked like that when she was a child.

Counseling and Risk Assessment Session

Based on all the morphic features, Cathy was told that she does have PJS.
PJS increases the risk for breast cancer, which Cathy had at age 30. Her other breast is still at increased risk.
PJS also increases the risk for colon cancer, cancer of the small bowel, pancreatic cancer, and gastric cancer. Basically, all of the GI tract is at increased risk for cancer.
PJS is autosomal dominant.
- Based on the characteristic freckling, Cathy's daughter is suspected of having PJS.
- Cathy's 2-year-old son does not show any freckling, but PJS cannot be ruled out.

Recommendations

Patient:

Increase colonoscopy to every 2 years along with an upper endoscopy of the small bowel.
Continue annual mammogram and clinical breast exam.
Screening for pancreatic cancer was mentioned, along with the controversy over screening recommendations.

Children:

For the daughter, begin colonoscopy and upper endoscopy of the small bowel at age 12 and continue every 2 years.
For the son, screening can wait.

Decision-Making

Cathy was concerned about the screening recommendations for her daughter as her first situation occurred at age 10, concerned of waiting until age 12. We talked about performing a baseline small bowel series to see if there are any polyps.
A gene has been identified, STK11 on chromosome 19, however, there is currently no clinical test available.
There are a couple of research groups collecting blood samples from PJS families, so Cathy may be able to contact them and possibly get some answers.

Provider Questions

If people had recognized that Cathy had Peutz-Jeghers Syndrome at the time her breast cancer was diagnosed, should she have had a bilateral mastectomy?

We have calculated the risk for breast cancer several times and it is high. When we looked over the case reports, there was a significant number of people with bilateral breast cancer. When Cathy asked about prophylactic mastectomy, we told her she should consider it. Her surgeon had also mentioned it to her as an option.

Does melanoma have any relation with Peutz-Jeghers Syndrome? Are the dark areas related to sun exposure?

As far as we know, the appearance of the pigmented areas is not related to sun exposure; however, as to their disappearance, we don't know. Freckling on the lips definitely does go away, but some of the other pigmented areas like on the digits do not appear to fade.

Additional Resources

CancerNet Cancer Genetics

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