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Prodinger, Peter M.; Sarbia, Mario; Massann, Joerg; Straka, Christian; Meyer, Guenther; Steinlein, Ortrud K.: Gorlin syndrome associated with small bowel carcinoma and mesenchymal proliferation of the gastrointestinal tract: case report and review of literature. In: BMC Cancer 2010, 10:360




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.