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

Peter M Prodinger; Mario Sarbia; Jörg Massmann; Christian Straka; Günther Meyer; Ortrud K Steinlein

doi:10.1186/1471-2407-10-360

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

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

Authors

Peter M Prodinger¹, Mario Sarbia, Jörg Massmann, Christian Straka, Günther Meyer, Ortrud K Steinlein

Affiliation

¹ Institut für Humangenetik, University of Munich, University Hospital, Goethestr, 29, 80336 Munich, Germany.

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.

Publication types

Case Reports

MeSH terms

Basal Cell Nevus Syndrome / complications
Basal Cell Nevus Syndrome / genetics
Basal Cell Nevus Syndrome / pathology*
Cell Proliferation*
Gastrointestinal Tract / metabolism
Gastrointestinal Tract / pathology*
Germ-Line Mutation / genetics
Humans
Intestinal Neoplasms / complications
Intestinal Neoplasms / genetics
Intestinal Neoplasms / pathology*
Intestine, Small / metabolism
Intestine, Small / pathology*
Male
Mesoderm / metabolism
Mesoderm / pathology*
Middle Aged
Patched Receptors
Patched-1 Receptor
Prognosis
Receptors, Cell Surface / genetics
Review Literature as Topic

Substances

PTCH1 protein, human
Patched Receptors
Patched-1 Receptor
Receptors, Cell Surface