Peutz-Jeghers Syndrome

Peutz-Jeghers syndrome (PJS) is characterized by the combination of gastrointestinal hamartomatous polyps and mucocutaneous pigmentation. Polyposis is most prevalent in the small intestine, but also presents in the stomach and large bowel in the majority of affected persons. The classic mucocutaneous stigmata include dark pigmented macules around the mouth, eyes, and nostrils, on the buccal mucosa, and in the perianal area, and hyperpigmented areas on the fingers. Affected females have increased risk to develop sex cord tumors with annular tubules (SCTAT), a benign ovarian neoplasm, as well as adenoma malignum of the cervix, a rare aggressive carcinoma. More infrequently, affected males can develop calcifying Sertoli cell tumors of the testes which may cause gynecomastia.

Tests Available

Forms and Documents

Test Details

STK11
  • An individual with two or more of the following features: 1. Two or more Peutz-Jeghers-type hamartomatous polyps of the small intestine. 2. Mucocutaneous hyperpigmentation of the mouth, lips, nose, eyes, genitalia, or fingers v. 3. Family history of PJS
  • An unaffected individual with a family history suggestive of PJS (see above) when an affected individual is unavailable for his or her own genetic testing.
  • Capillary Sequencing
  • MLPA

Ordering

2071
3 weeks
2-5 mL Blood - Lavender Top Tube
Buccal Swab | Fibroblasts (separate charge for cell culture may apply) | Oral Rinse

Billing

81404x1, 81405x1
Yes
Yes
* For price inquiries please email zebras@genedx.com

References

  1. Aretz, S. et al., High Proportion on Large Genomic STK11 Deletions in Peutz-Jeghers Syndrome. Human Mutation 12: 513-519, 2005
  2. Chow, E. et al. An updated mutation spectrum in an Australian series of PJS patients provides further evidence for only one gene locus. Clin Genet. 70:409-414, 2006
  3. Mehenni, H. et al. Molecular and clinical characteristics in 46 families affected with Peutz-Jehgers syndrome. Dig Dis Sci. 52:1924-1933, 2007