黑斑息肉病病人的恶性肿瘤易感性研究

Peutz-Jeghers patients:cancer predisposition study.

目的 研究黑斑息肉病病人肿瘤风险，明确其肿瘤易感性。方法 调查、总结治疗和收集的５ 个黑斑息肉病家系３２ 例病人和７ 例散发性病人，并结合国内近１０ 年的文献３４ 篇加以分析。结果 共１６９ 例病人，恶性肿瘤发生率为２０－１ ％ ，其中家族性病人９０ 例，恶性肿瘤发生率为２０ ％ 。病理类型以低分化粘液腺癌为多。平均确诊年龄３２－２ 岁。消化道癌中，错构瘤癌变５ 例，腺瘤癌变２ 例。结论 黑斑息肉病病人是典型的恶性肿瘤高发人群。常见肿瘤依次为大肠癌、胃癌、小肠癌、宫颈癌和卵巢癌等。恶性肿瘤发病年龄轻，分化较差。在黑斑息肉病病人中存在错构瘤－ 腺瘤－ 癌的肿瘤发生途径，病人的一些（ 发生ＬＫＢ１ 杂合性缺失的） 错构瘤和腺瘤性息肉应被视为癌前病变。

Objective To investigate the cancer risk in Peutz-Jeghers patients,and discuss the mechanism underlying its cancer predisposition.Methods To study the cancer incidence and characteristics in Chinese Peutz-Jeghers patients collected in our work and in Chinese literature in recent 10 years.Results The cancer incidence among these 169 patients is 20 1%,and 20% among larger Peutz-Jeghers pedigrees.The mean age of onset is 32 2 years,most cancers are of low differentiated mucous.5 gastrointestinal cancers developed from hamartomas,and 2 from adenoma polyps.Conclusion Peutz-Jeghers patients predispose to cancers of multiple organs.The most freqently seen cancers are colorectal,gastric,small intestineal,cervical and ovary cancers.These cancers have early onset and poor differentiation.A hamartoma-adenoma-cancer sequence exists in Peutz-Jeghers patients.Some hamartomas and adenomas(acquiring LKB1 LOH)should be treated as premalignant lesions.