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[结直肠息肉病综合征:诊断指南]

[Colorectal polyposis syndrome: a guide to diagnosis].

作者信息

Roessner A, Kuester D, Guenther T

机构信息

Institut für Pathologie, Otto-von-Guericke-Universität Magdeburg, Leipziger Str. 44, 39120, Magdeburg, Deutschland.

出版信息

Pathologe. 2011 Jul;32(4):303-13. doi: 10.1007/s00292-011-1437-z.

DOI:10.1007/s00292-011-1437-z
PMID:21688020
Abstract

Biopsies and resection specimens of the gastrointestinal tract are a major part of the routine workload in many histopathology departments, whereby polypoid lesions are generally the main focus. In addition to distinguishing non-neoplastic from neoplastic polyps and evaluating the grade of dysplasia of the latter, the pathologist should always consider the possibility of an underlying polyposis syndrome. Not only have additional hereditary polyposis syndromes been identified in recent years due to a better understanding of their genetic and epigenetic alterations but also knowledge on well known polyposes has improved, leading to subtyping of various forms according to their different genotype. It is essential for the histopathologist to understand that the conventional histomorphology of individual polyps combined with information on the number and distribution of these lesions and clinical data can provide clues regarding a possible hereditary background. Therefore, the correct histological assessment of polyps is not just about getting the diagnosis right, it might also lead to genetic screening of family members and spouses.

摘要

胃肠道活检和切除标本是许多组织病理学科室日常工作量的主要部分,其中息肉样病变通常是主要关注点。除了区分非肿瘤性息肉和肿瘤性息肉并评估后者的发育异常程度外,病理学家还应始终考虑潜在息肉病综合征的可能性。近年来,由于对遗传和表观遗传改变有了更好的理解,不仅发现了更多的遗传性息肉病综合征,而且对知名息肉病的认识也有所提高,从而根据不同的基因型对各种形式进行了亚型分类。组织病理学家必须明白,单个息肉的传统组织形态学特征,结合这些病变的数量、分布信息以及临床数据,可以为可能的遗传背景提供线索。因此,对息肉进行正确的组织学评估不仅关乎正确诊断,还可能导致对家庭成员和配偶进行基因筛查。

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2
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Defining phenotypes and cancer risk in hyperplastic polyposis syndrome.增生性息肉病综合征中表型和癌症风险的定义。
Dis Colon Rectum. 2011 Feb;54(2):164-70. doi: 10.1007/DCR.0b013e3181fd4c15.
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High cancer risk and increased mortality in patients with Peutz-Jeghers syndrome.患 Peutz-Jeghers 综合征患者的癌症风险高和死亡率增加。
Gut. 2011 Feb;60(2):141-7. doi: 10.1136/gut.2010.223750.
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Gut. 2010 Jul;59(7):975-86. doi: 10.1136/gut.2009.198499.
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Colorectal Dis. 2010 Oct;12(10 Online):e243-9. doi: 10.1111/j.1463-1318.2010.02218.x.
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Hereditary colorectal cancer syndromes: familial adenomatous polyposis and lynch syndrome.遗传性结直肠癌综合征:家族性腺瘤性息肉病和林奇综合征。
Surg Clin North Am. 2008 Aug;88(4):819-44, vii. doi: 10.1016/j.suc.2008.04.012.
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Oxidative stress in ulcerative colitis-associated carcinogenesis.溃疡性结肠炎相关癌变中的氧化应激
Pathol Res Pract. 2008;204(7):511-24. doi: 10.1016/j.prp.2008.04.011. Epub 2008 Jun 20.
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Colorectal polyposes: from phenotype to diagnosis.结直肠息肉病:从表型到诊断
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Sporadic and syndromic hyperplastic polyps and serrated adenomas of the colon: classification, molecular genetics, natural history, and clinical management.散发性和综合征性结肠增生性息肉及锯齿状腺瘤:分类、分子遗传学、自然史及临床处理
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Recently identified colon cancer predispositions: MYH and MSH6 mutations.近期发现的结肠癌易感性:MYH和MSH6突变
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