A Peutz–Jeghers syndrome family associated with sinonasal adenocarcinoma: 28 years follow up report
作者: Jy-Ming ChiangTse-Ching Chen
作者单位: 1Chang Gung Memorial Hospital, Lin-Kou Medical Center
2Chang Gung University
刊名: Familial Cancer, 2017, Vol.16 (4), pp.555-560
来源数据库: Springer Journal
DOI: 10.1007/s10689-017-9983-z
关键词: Peutz-Jeghers syndromeNasal polypsSTK11 mutation
英文摘要: 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.
原始语种摘要: 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.
全文获取路径: Springer  (合作)
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来源刊物:
影响因子:1.935 (2012)

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关键词翻译
关键词翻译
  • adenocarcinoma 腺癌
  • polyposis 息肉病
  • family 
  • hereditary 遗传性
  • mutation 变种
  • malignant 恶性的
  • syndrome 症候群
  • intestinal 肠的
  • neoplasms 新生物
  • recommended 推荐