Type

Report

Authors

Patrick J Broe
Elaine W Kay
Robert J Cummins
Gavin C O'Brien
Colin J McCarthy

Subjects

Biochemistry

Topics
male gastrointestinal stromal tumors biosynthesis middle aged humans receptor platelet derived growth factor alpha neoplasms second primary dermatofibrosarcoma proto oncogene proteins c sis skin neoplasms metabolism stomach neoplasms up regulation

GIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans. (2008)

Abstract A 61-year-old male was referred following an incidental radiological discovery of an intra-abdominal mass. His medical history included excision of a lumbar dermatofibrosarcoma protuberans (DFSP) 5 years previously. A CT scan of the abdomen revealed a mass arising from the greater curvature of the stomach. Upper GI endoscopy was normal. He underwent successful laparoscopic resection of this mass. The histology of the abdominal mass revealed a gastrointestinal stromal tumor (GIST) with poor prognostic indicators. Immunohistochemical analysis of the GIST and his previous DFSP was performed. Immunohistochemistry suggested a link between the GIST and his previous DFSP involving the PDGF signalling system. Both GIST and DFSP are extremely rare tumors. A mutation in the platelet-derived growth factor receptor alpha (PDGFR-alpha) has been described in 5-15% of GISTs. It has been shown that DFSP is frequently associated with a translocation between PDGF-B (Chr 22) and COL1A1 (Chr 17), causing continuous activation of PDGFR-beta. Literature review confirms that there are no previously reported cases of both of these tumors occurring in the same patient. We hypothesize that this patient may have a previously undescribed genetic mutation involving the PDGF signalling system, resulting in these two very rare malignancies. Immunohistochemistry studies confirmed the link on this occasion. Improvements in our understanding of the molecular biology of the PDGF system may novel therapeutic targets in the future.
Collections Ireland -> Royal College of Surgeons in Ireland -> PubMed

Full list of authors on original publication

Patrick J Broe, Elaine W Kay, Robert J Cummins, Gavin C O'Brien, Colin J McCarthy

Experts in our system

1
Elaine W Kay
Royal College of Surgeons in Ireland
Total Publications: 157
 
2
Robert Cummins
Royal College of Surgeons in Ireland
Total Publications: 22