Josbert J. Keller, MD; Anne Marie Westerman, MD; Felix W.M. de Rooij, PhD; J.H. Paul Wilson, MD; Herman van Dekken, MD, PhD; Francis M. Giardiello, MD; Marian A.J. Weterman, PhD; G. Johan A. Offerhaus, MD, MPH, PhD
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Keller JJ, Westerman AM, de Rooij FW, Wilson JP, van Dekken H, Giardiello FM, et al. Molecular Genetic Evidence of an Association between Nasal Polyposis and the Peutz–Jeghers Syndrome. Ann Intern Med. 2002;136:855-856. doi: 10.7326/0003-4819-136-11-200206040-00020
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Published: Ann Intern Med. 2002;136(11):855-856.
TO THE EDITOR:
The Peutz–Jeghers syndrome is an autosomal dominant disorder characterized by hamartomatous polyposis of the gastrointestinal tract, melanin pigmentation of the skin and mucous membranes, and an increased risk for cancer (1, 2). It is caused by a germline mutation in the STK11/LKB1 gene on chromosome 19p13.3 (2). Hamartomas and carcinomas in patients with the Peutz–Jeghers syndrome show loss of heterozygosity at chromosome 19p13.3, indicating inactivation of the wild-type STK11/LKB1 gene (3).
Peutz described the first family with the Peutz–Jeghers syndrome as having “a highly remarkable combination of polyposis of the mucosa of the intestinal tract and of the nasopharynx, together with typical mucocutaneous pigmentations” (1). Although nasal polyposis in affected patients has been mentioned occasionally (4, 5), it is not a recognized extraintestinal manifestation of the disease. Consequently, we used a molecular genetic approach to investigate the association between nasal polyposis, the Peutz–Jeghers syndrome, and STK11/LKB1.
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