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戈林综合征合并小肠腺癌和胃肠道间质增生：病例报告及文献复习。

Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature.

机构信息

Institut für Humangenetik, University of Munich, University Hospital, Goethestr, 29, 80336 Munich, Germany.

出版信息

BMC Cancer. 2010 Jul 7;10:360. doi: 10.1186/1471-2407-10-360.

DOI:10.1186/1471-2407-10-360
PMID:20609239
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC2912266/
Abstract

UNLABELLED

BACKGROUND AND CASE PRESENTATION: A patient with nevoid basal cell carcinoma syndrome (Gorlin syndrome) presented with two unusual clinical features, i.e. adenocarcinoma of the small bowel and extensive mesenchymal proliferation of the lower gastrointestinal tract.

CONCLUSIONS

We discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

摘要

背景和病例介绍

一名患有神经嵴基底细胞痣综合征（Gorlin 综合征）的患者出现了两种不常见的临床特征，即小肠腺癌和下消化道广泛的间充质增生。

结论

我们讨论了这两种特征可能与先前未描述的患者 PTCH 种系突变有关的可能性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/a03f89f792e6/1471-2407-10-360-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/1d1b26a761c9/1471-2407-10-360-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/1e9cf6556b0c/1471-2407-10-360-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/e1e593df3849/1471-2407-10-360-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/a03f89f792e6/1471-2407-10-360-4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/1d1b26a761c9/1471-2407-10-360-1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/1e9cf6556b0c/1471-2407-10-360-2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/e1e593df3849/1471-2407-10-360-3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/ba7d/2912266/a03f89f792e6/1471-2407-10-360-4.jpg

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