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本文引用的文献

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Medulloblastoma-translating discoveries from the bench to the bedside.髓母细胞瘤——将实验室的发现转化为临床实践。
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Cytogenetic prognostication within medulloblastoma subgroups.在髓母细胞瘤亚组中进行细胞遗传学预后评估。
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Familial adenomatous polyposis of the colon.家族性腺瘤性结肠息肉病
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The clinical implications of medulloblastoma subgroups.成神经管细胞瘤亚组的临床意义。
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Molecular subgroups of medulloblastoma: an international meta-analysis of transcriptome, genetic aberrations, and clinical data of WNT, SHH, Group 3, and Group 4 medulloblastomas.髓母细胞瘤的分子亚型：WNT、SHH、Group 3 和 Group 4 髓母细胞瘤的转录组、遗传异常和临床数据的国际荟萃分析。
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Histology predicts a favorable outcome in young children with desmoplastic medulloblastoma: a report from the children's oncology group.组织学预测年轻弥漫性内生型桥脑胶质瘤患儿的预后良好：儿童肿瘤协作组的报告。
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家族性腺瘤性息肉病

Familial Adenomatous Polyposis.

作者信息

Waller Alexia, Findeis Sarah, Lee Michael J

机构信息

Department of Pathology, Baylor University Medical Center, Dallas, Texas, United States.

School of Medicine and Dentistry, Pennsylvania State University, Hershey, Pennsylvania, United States.

出版信息

J Pediatr Genet. 2016 Jun;5(2):78-83. doi: 10.1055/s-0036-1579760. Epub 2016 Mar 15.

DOI:10.1055/s-0036-1579760
PMID:27617147
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4918699/
Abstract

Familial adenomatous polyposis (FAP), caused by a germline mutation in the adenomatous polyposis coli (APC) gene on chromosome 5q21, is an autosomal dominant disorder characterized by hundreds to thousands of adenomas throughout the gastrointestinal tract. A variety of extraintestinal manifestations, including thyroid, soft tissue, and brain tumors, may also be present. These patients inevitably develop colorectal carcinoma by the fourth decade of life. In this review, the pathology, epidemiology, and genetic features of FAP are discussed.

摘要

家族性腺瘤性息肉病（FAP）由位于5号染色体长臂21区的腺瘤性息肉病基因（APC）的种系突变引起，是一种常染色体显性疾病，其特征是胃肠道内有数百至数千个腺瘤。还可能出现多种肠外表现，包括甲状腺、软组织和脑肿瘤。这些患者在40岁时不可避免地会发展为结直肠癌。在这篇综述中，我们讨论了FAP的病理学、流行病学和遗传学特征。