A Peutz–Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report

Jy Ming Chiang*, Tse Ching Chen

*Corresponding author for this work

Research output: Contribution to journalJournal Article peer-review

5 Scopus citations

Abstract

Peutz–Jeghers syndrome (PJS) is a rare hereditary disorder characterized by hamartomatous polyps in both of the gastrointestinal tract and mucosal pigmentation. It could increase in risk of intestinal and extra-intestinal neoplasms. We here described three cases of sinonasal polyposis in a PJS family and two developed sinonasal type adenocarcinoma. Genetic study revealed a germline STK11/LKB1 mutation on codon 179 (c.C536G, p.P179R) of exon 4. LOH analysis of the LKB1 locus confirms this to be a deleterious mutation. Sinonasal polyposis with malignant transformation could be encountered in PJS patients. Regular follow-up was recommended for the risk of malignant changes in nasal polyps.

Original languageEnglish
Pages (from-to)555-560
Number of pages6
JournalFamilial Cancer
Volume16
Issue number4
DOIs
StatePublished - 01 10 2017
Externally publishedYes

Bibliographical note

Publisher Copyright:
© 2017, Springer Science+Business Media Dordrecht.

Keywords

  • Nasal polyps
  • Peutz-Jeghers syndrome
  • STK11 mutation

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