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

Peter M Prodinger,Christian Straka,Jörg Maßmann,Günther Meyer,Mario Sarbia,Ortrud K Steinlein

doi:10.1186/1471-2407-10-360

Peter M Prodinger, Christian Straka + Show 4 more

Open Access

https://doi.org/10.1186/1471-2407-10-360

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Abstract

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.

Highlights

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
Nevoid basal cell carcinoma syndrome (NBCCS), known as Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the Patched (PTCH) gene on chromosome 9q22
In the following we describe the clinical, histopathological and genetic findings in a patient showing a combination of an unusual phenotype of NBCCS, a rare adenocarcinoma of the ileum and mesenchymal proliferation of the small bowel and probably the stomach

Summary

Background

Nevoid basal cell carcinoma syndrome (NBCCS), known as Gorlin syndrome, is a rare autosomal dominant disorder caused by mutations in the Patched (PTCH) gene on chromosome 9q22. In the following we describe the clinical, histopathological and genetic findings in a patient showing a combination of an unusual phenotype of NBCCS, a rare adenocarcinoma of the ileum and mesenchymal proliferation of the small bowel and probably the stomach. The composition of smooth muscle cells, Schwann cells and neuronal cells and the multifocal occurrence within the small bowel did not fit into any known histopathological classification These findings are best described as mesenchymal proliferation with neural and smooth muscle components. One biopsy taken in the antrum of the stomach showed the unusual spindle cell accumulations described above, but only in small areas close to the section border and without confirmation of neuronal a b c de Figure 3 Small intestine histopathology. The mutation confirmed the clinical diagnosis of NBCCS in our patient (Figure 4)

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Conclusion