消化道错构瘤性息肉的最新研究进展

摘要:

错构瘤息肉综合征（Hamartomatous Polyposis Syndromes, HPS）是一种罕见的遗传性疾病，HPS包括幼年性息肉综合征（juvenile polyposis syndrome, JPS）、PTEN错构瘤综合征(PTEN-hamartoma tumor syndrome)、Peutz-Jeghers综合征(Peutz-Jeghers syndrome, PJS)以及遗传性混合息肉综合征。HPS以消化道错构瘤息肉为特征，其临床表现包括黑便、直肠出血、贫血等消化道症状以及皮肤异常、发育迟缓等消化道外症状。HPS的诊断目前主要依靠患者的临床表现，但由于HPS十分罕见，并且临床表现复杂多样，HPS的诊断一直存在困难。近年来，得益于基因检测技术的快速发展，很多基因被证实与HPS的发生发展关系密切，这为HPS的监测、诊断和治疗带来了新的可能。本篇文章将从HPS的临床表现、基因表型、病理特征、治疗策略以及预防监测方面展开论述。

Abstract:

Hamartomatous Polyposis Syndromes (HPS) are rare hereditary diseases, which include Juvenile polyposis syndrome, PTEN hamartoma tumor syndrome, Peutz-Jeghers syndrome and hereditary mixed polyposis syndrome. HPS is featured by the existence of hamartomatous polyps in the gastrointestinal tract. The typical clinical manifestation of HPS includes melena, proctorrhagia, anemia as well as extra-intestinal findings such as dermatological features and hypoevolutism. Currently, the diagnosis of HPS is mainly depends on its clinical manifestation, but owning to its various features, there still exists much difficulty in accurate diagnosing. Nowadays, as the fast development of genetic technology, many genes have been identified to be associated with HPS, which bring us the hope to monitor, diagnose and treat this disease. In this review, we will discuss the latest development of HPS focusing on its clinical and genetic manifestation, pathological features and its therapeutic aspects.