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

Journal of Gastrointestinal Surgery : Official Journal of the Society for Surgery of the Alimentary Tract
Colin J McCarthyPatrick J Broe

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 ...Continue Reading

References

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Citations

Mar 22, 2015·Veterinary Pathology·G AvalloneP Roccabianca
Jun 15, 2016·International Journal of Cancer. Journal International Du Cancer·Myles J SmithYoo-Joung Ko
Oct 5, 2016·Veterinary Pathology·G AvalloneG Sarli
Aug 23, 2019·World Journal of Gastroenterology : WJG·Johanna WaidhauserBruno Märkl

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