Peutz-Jegher, complicated by recurrent intussusceptions and incidentally discovered primary colon cancer.
Peutz-Jeghers Syndrome, alternatively called hereditary intestinal polyposis syndrome, is an autosomally dominant inherited genetic disease with a classical morphology of numerous hamartomatous intestinal polyps (most commonly the small intestine) and freckles on and around the lips. Likely related to a mutation in the tumor suppressor gene STK11/LKB1 gene on chromosome 19, the natural prognosis of the disorder is fairly benign during early childhood. Many children will report a history of anemia, rectal bleeding, or abdominal pain from intussusceptions or de novo bleeding of intestinal polyps. As the patient ages past their third and fourth decades, however, the risk of malignancy (not necessarily confined to the GI tract) increases dramatically. By the age of 60, nearly all patients have been diagnosed with at least one malignancy. Interestingly, the intestinal polyps so characteristic of the disease are unlikely to become malignant and a large number of associated malignancies are completely extra-intestinal.
Many patients are diagnosed by early adulthood with anemia from occult bleeding, obstruction, or during an episode of intussusception. Such recurrent intussusceptions can pose a challenge to the treating physician as multiple surgeries may be required over a patient’s lifetime. Once diagnosed, these patients benefit from early and frequent surveillance for malignancy with particular focus on the pancreas, the gastrointestinal tract, the reproductive tract, and the breast. In order, the most common malignancies seen are breast, colon, pancreas, stomach, and ovary. From a radiologic stand-point, abdominal MRI/MRCP is recommended every one to two years for evaluation of the pancreas (beginning at age 30. Annual mammography is indicated for breast screening beginning at age 25. The American College of Gastroenterology advocates the use of laboratory studies sensitive to some forms of malignancy (CEA, CA-19-9, CA-125) every one to two years, beginning at age 25. Younger children are at increased risk of testicular cancer, and annual testicular screening should be considered until at least late teenage years.
Given its heritability, genetic counseling is highly advised for patients with, or are considering, children. Families planning on children may also benefit from pre-implantation genetic diagnosis. It should be noted, however, that mutations on different genes may result in the development of Peutz-Jeghers, and that a negative genetic screen may not necessarily exclude the disease.
Attard TM, Septer S, et al. “Peutz-Jeghers Syndrome” Medscape.com Mar 2015.
Boardman LA, Thibodeau SN, Schaid DJ, et al. “Increased risk for cancer in patients with the Peutz-Jeghers syndrome.” Ann Intern Med. 1998 Jun 1. 128(11):896-9.
Korsse SE, Harinck F, van Lier MG, Biermann K, Offerhaus GJ, Krak N, et al. “Pancreatic cancer risk in Peutz-Jeghers syndrome patients: a large cohort study and implications for surveillance.” J Med Genet. 2013 Jan. 50(1):59-64.
Chung DC, Adar T, et al. “Peutz-Jeghers Syndrome: Screening and Management” UpToDate.com. Dec 2015.
Buck JL, Harned RK, et al. “Peutz-Jeghers Syndrome” Radiographics. 1992. 12:365-378.
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