Open Access Case report

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

Peter M Prodinger1, Mario Sarbia2, Jörg Maßmann2, Christian Straka3, Günther Meyer1 and Ortrud K Steinlein4*

Author Affiliations

1 Chirugische Klinik München-Bogenhausen, Denninger Str. 44, 81679 Munich, Germany

2 Gemeinschaftspraxis Pathologie, Lachnerstr. 2, 80639 Munich, Germany

3 Interne Klinik Dr. Argirov, Münchner Str. 23-29, 82335 Berg, Germany

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

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BMC Cancer 2010, 10:360  doi:10.1186/1471-2407-10-360

Published: 7 July 2010

Abstract

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.