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dc.contributor.authorMcCarthy, Colin J
dc.contributor.authorO'Brien, Gavin C
dc.contributor.authorCummins, Robert J
dc.contributor.authorKay, Elaine W
dc.contributor.authorBroe, Patrick J
dc.date.accessioned2011-04-05T14:27:14Z
dc.date.available2011-04-05T14:27:14Z
dc.date.issued2010-02
dc.identifier.citationGIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans. 2010, 14 (2):398-403 J. Gastrointest. Surg.en
dc.identifier.issn1873-4626
dc.identifier.pmid19936851
dc.identifier.doi10.1007/s11605-009-1088-z
dc.identifier.urihttp://hdl.handle.net/10147/127200
dc.description.abstractA 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.
dc.description.abstractThe 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.
dc.description.abstractImmunohistochemistry suggested a link between the GIST and his previous DFSP involving the PDGF signalling system.
dc.description.abstractBoth 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.
dc.description.abstractWe 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.
dc.language.isoenen
dc.subject.meshDermatofibrosarcoma
dc.subject.meshGastrointestinal Stromal Tumors
dc.subject.meshHumans
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshNeoplasms, Second Primary
dc.subject.meshProto-Oncogene Proteins c-sis
dc.subject.meshReceptor, Platelet-Derived Growth Factor alpha
dc.subject.meshSkin Neoplasms
dc.subject.meshStomach Neoplasms
dc.subject.meshUp-Regulation
dc.titleGIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans.en
dc.typeArticleen
dc.contributor.departmentDepartment of Surgery, The Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin 9, Ireland. colin.mccarthy@iol.ieen
dc.identifier.journalJournal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tracten
dc.description.provinceLeinster
html.description.abstractA 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.
html.description.abstractThe 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.
html.description.abstractImmunohistochemistry suggested a link between the GIST and his previous DFSP involving the PDGF signalling system.
html.description.abstractBoth 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.
html.description.abstractWe 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.


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