遗传性结直肠癌综合征

F. Rivera, Yuliana Mendoza, H. Medina
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摘要

背景:近几十年来,50岁以下人群的遗传性结直肠癌病例有所增加。几项研究显示遗传性结直肠肿瘤具有相似的病理和分子及临床差异。我们细分了遗传结直肠癌的两组新病理:息肉病综合征和非息肉病综合征。证据获取:科学检索完成至2020年7 - 10月。搜索仅限于预定义的关键字。纳入标准是与搜索标准(关键词)相关的文章。之后,Rivera F.和Mendoza Y.查找相关文章,删除重复,并为我们的综述文稿选择相关信息。我们纳入了80篇符合既定标准的科学文章。结果:根据有无息肉及其组织学分型、分型或亚分进行分型。我们还解释了遗传类型,受影响的基因,临床表现,疾病出现的平均年龄和息肉的组织学,如果疾病有它。因此,在本文中,我们帮助读者识别每种综合征。结论:尽管结直肠癌的病因较低,但遗传性结直肠癌的病例在过去几年中呈增加趋势。遗传研究的发展导致了与这种病理相关的分子和临床标准的建立、修改和重新定义。然而,有一小部分患者没有属于任何分类的分子或临床标准。此外,与分子分析相关的有限获取或高成本使这些病理的研究复杂化,因此导致诊断和一般治疗不足。因此,遗传性结直肠癌仍有新的遗传分支有待研究,从而为患者建立综合治疗方案。
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Hereditary colorectal cancer syndromes
Context: In recent decades there has been an increase in hereditary colorectal cancer cases in people under 50 years of age. Several studies revealed similar pathologies with both molecular and clinical variations about hereditary colorectal neoplasms. We subdivided those new pathologies derived from the two groups in which hereditary colorectal cancer is classified: polyposis syndromes and non polyposis syndromes. Evidence Acquisition: The scientific search was done up to July – October, 2020. The search was limited to predefined keywords. The inclusion criteria were articles relevant to the search criteria (keywords). After, Rivera F. and Mendoza Y. looked for the associated articles, removed duplicates, and selected relevant information for our review manuscript. We included 80 scientific articles that met the established criteria. Results: Syndromes were divided according to the presence of polyps or not and their histological type and the classification or subclassification. Also we explain the type of inheritance, the affected genes, the clinical manifestations, the mean age of presentation of the disease and the polyps histology in case the disease has it. So, in this article we facilitated the identification of each syndrome for the reader. Conclusions: Despite representing a low etiology of colorectal cancer, cases of hereditary colorectal cancer show an increased trend over the last years. The development of genetic research has led to the establishment, modification and redefinition of molecular and clinical criteria associated with this pathology. However, there is a small group of patients that don't have molecular or clinical criteria belonging to any classification. Also the limited access or high cost associated with molecular analysis complicates the study of these pathologies and therefore lead to insufficient diagnosis and general treatment. For these reasons, there are still new genetic branches on hereditary colorectal cancer to investigate and thus establish comprehensive treatments for patients.
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