Molecular Genetic Evidence of an Association between Nasal Polyposis and the Peutz–Jeghers Syndrome
Authors: Josbert J. Keller, Anne Marie Westerman, Felix W.M. de Rooij, J.H. Paul Wilson, Herman van Dekken, Francis M. Giardiello, Marian A.J. Weterman, G. Johan A. Offerhaus
Journal: Annals of Internal Medicine (2002)

Letters4 June 2002Molecular Genetic Evidence of an Association between Nasal Polyposis and the Peutz–Jeghers SyndromeJosbert 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, and G. Johan A. Offerhaus, MD, MPH, PhDJosbert J. Keller, MDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, Anne Marie Westerman, MDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, Felix W.M. de Rooij, PhDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, J.H. Paul Wilson, MDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, Herman van Dekken, MD, PhDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, Francis M. Giardiello, MDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, Marian A.J. Weterman, PhDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this author, and G. Johan A. Offerhaus, MD, MPH, PhDAcademic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus)Search for more papers by this authorAuthor, Article, and Disclosure Informationhttps://doi.org/10.7326/0003-4819-136-11-200206040-00020 SectionsAboutFull TextPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissions ShareFacebookTwitterLinkedInRedditEmail 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 ...References1. Peutz JL. A highly remarkable combination of polyposis of the mucosa of the intestinal tract and of the nasopharynx, together with typical mucocutaneous pigmentations of the skin and mucous membranes [Dutch]. Nederlandsch Maandschrift voor Geneeskunde. 1921;10:134-46. Google Scholar2. Hemminki A. The molecular basis and clinical aspects of Peutz–Jeghers syndrome. Cell Mol Life Sci. 1999;55:735-50. [PMID: 10379360] CrossrefMedlineGoogle Scholar3. Entius MM, Keller JJ, Westerman AM, van Rees BP, van Velthuysen ML, de Goeij AF, et al . Molecular genetic alterations in hamartomatous polyps and carcinomas of patients with Peutz–Jeghers syndrome. J Clin Pathol. 2001;54:126-31. [PMID: 11215281] CrossrefMedlineGoogle Scholar4. Westerman AM, Entius MM, de Baar E, Boor PP, Koole R, van Velthuysen ML, et al . Peutz–Jeghers syndrome: 78-year follow-up of the original family. Lancet. 1999;353:1211-5. [PMID: 10217080] CrossrefMedlineGoogle Scholar5. Vogel T, Schumacher V, Saleh A, Trojan J, Moslein G. Extraintestinal polyps in Peutz–Jeghers syndrome: presentation of four cases and review of the literature. Deutsche Peutz–Jeghers-Studiengruppe. Int J Colorectal Dis. 2000;15:118-23. [PMID: 10855556] CrossrefMedlineGoogle Scholar Author, Article, and Disclosure InformationAffiliations: Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Keller)Dijkzigt Hospital; University of Rotterdam; 3015 GD Rotterdam, the Netherlands (Westerman, de Rooij, Wilson, van Dekken)Johns Hopkins University; Baltimore, MD 21205 (Giardiello)Academic Medical Center; University of Amsterdam; 1105 AZ Amsterdam, the Netherlands (Weterman, Offerhaus) PreviousarticleNextarticle Advertisement FiguresReferencesRelatedDetails Metrics Cited byA Primary Barrett's Adenocarcinoma with a Squamous Cell Carcinoma ComponentA Peutz–Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up reportPeutz-Jeghers SyndromeEndoscopic mucosal biopsy – histopathological interpretationPrimary esophageal adenosquamous carcinoma: a retrospective analysis of 24 casesPeutz–Jeghers SyndromeLKB1 and AMPK Family Signaling: The Intimate Link Between Cell Polarity and Energy MetabolismAnalysis of most common CFTR mutations in patients affected by nasal polyps 4 June 2002Volume 136, Issue 11Page: 855-856KeywordsAllelesChromosomesDNAGermline mutationHaplotypesHeterozygosityMedical ethicsMelaninMolecular biologyMucous membranes ePublished: 4 June 2002 Issue Published: 4 June 2002 Copyright & PermissionsCopyright © 2002 by American College of Physicians. 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