GIST with a twist--upregulation of PDGF-B resulting in metachronous gastrointestinal stromal tumor and dermatofibrosarcoma protuberans.
Affiliation
Department of Surgery, The Royal College of Surgeons in Ireland, Beaumont Hospital, Dublin 9, Ireland. colin.mccarthy@iol.ieIssue Date
2010-02MeSH
DermatofibrosarcomaGastrointestinal 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
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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 TractDOI
10.1007/s11605-009-1088-zPubMed ID
19936851Abstract
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
ArticleLanguage
enISSN
1873-4626ae974a485f413a2113503eed53cd6c53
10.1007/s11605-009-1088-z
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