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

Hdl Handle:
http://hdl.handle.net/10147/127200
Title:
GIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans.
Authors:
McCarthy, Colin J; O'Brien, Gavin C; Cummins, Robert J; Kay, Elaine W; Broe, Patrick J
Affiliation:
Department of Surgery, The Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin 9, Ireland. colin.mccarthy@iol.ie
Citation:
GIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans. 2010, 14 (2):398-403 J. Gastrointest. Surg.
Journal:
Journal of gastrointestinal surgery : official journal of the Society for Surgery of the Alimentary Tract
Issue Date:
Feb-2010
URI:
http://hdl.handle.net/10147/127200
DOI:
10.1007/s11605-009-1088-z
PubMed ID:
19936851
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.
Item Type:
Article
Language:
en
MeSH:
Dermatofibrosarcoma; Gastrointestinal Stromal Tumors; Humans; Male; Middle Aged; Neoplasms, Second Primary; Proto-Oncogene Proteins c-sis; Receptor, Platelet-Derived Growth Factor alpha; Skin Neoplasms; Stomach Neoplasms; Up-Regulation
ISSN:
1873-4626

Full metadata record

DC FieldValue Language
dc.contributor.authorMcCarthy, Colin Jen
dc.contributor.authorO'Brien, Gavin Cen
dc.contributor.authorCummins, Robert Jen
dc.contributor.authorKay, Elaine Wen
dc.contributor.authorBroe, Patrick Jen
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-

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