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 language | English |
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Pages (from-to) | 555-560 |
Number of pages | 6 |
Journal | Familial Cancer |
Volume | 16 |
Issue number | 4 |
DOIs | |
State | Published - 01 10 2017 |
Externally published | Yes |
Bibliographical note
Publisher Copyright:© 2017, Springer Science+Business Media Dordrecht.
Keywords
- Nasal polyps
- Peutz-Jeghers syndrome
- STK11 mutation