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

BMC Cancer

Case Report

Peter M Prodinger¹  Günther Meyer¹  Mario Sarbia²  Jörg Maßmann²  Ortrud K Steinlein³  Christian Straka⁴ 

[1] Chirugische Klinik München-Bogenhausen, Denninger Str. 44, 81679, Munich, Germany;Gemeinschaftspraxis Pathologie, Lachnerstr. 2, 80639, Munich, Germany;Institut für Humangenetik, University of Munich, University Hospital, Goethestr. 29, 80336, Munich, Germany;Interne Klinik Dr. Argirov, Münchner Str. 23-29, 82335, Berg, Germany;

关键词: Small Bowel;    Basal Cell Carcinoma;    Hedgehog Signalling;    Nevoid Basal Cell Carcinoma Syndrome;    Small Bowel Adenocarcinoma;   

DOI  :  10.1186/1471-2407-10-360

 received in 2009-11-20, accepted in 2010-07-07,  发布年份 2010

来源: Springer

【 摘 要 】

Background and Case PresentationA 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.ConclusionsWe discuss the possibility that these two features are pathogenetically linked to the formerly undescribed patient's PTCH germ line mutation.

【 授权许可】

Unknown   
© Prodinger et al; licensee BioMed Central Ltd. 2010. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.