Gut Liver.
2011 Jun;5(2):171-180.
Expression of DOG1, PDGFRA, and p16 in Gastrointestinal Stromal Tumors
- Affiliations
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- 1Department of Internal Medicine, Eulji University Hospital, Eulji University College of Medicine, Daejeon, Korea. jsh@eulji.ac.kr
- 2Department of Pathology, Chungnam National University School of Medicine, Daejeon, Korea.
- 3Research Institute for Medical Sciences, Chungnam National University School of Medicine, Daejeon, Korea.
- 4Department of Pathology, Eulji University Hospital, Eulji University College of Medicine, Daejeon, Korea.
Abstract
- BACKGROUND/AIMS
The diagnosis of gastrointestinal stromal tumors (GIST) relies on the demonstration of KIT expression, but KIT expression is absent or reduced in approximately 15% of GIST.
METHODS
Eighty-one GISTs were diagnosed between January 1998 and December 2007 at the Department of Pathology at both Chungnam National University Hospital and Eulji University Hospital, Daejeon. Medical history, patient follow-up, and radiographic data were collected if available in the medical records. To determine diagnostic and prognostic markers for GISTs focused on PDGFRA mutation and clinicopathologic features, we analyzed 81 GIST cases for KIT, PDGFRA, DOG1, and p16 expression and for mutation of PDGFRA genes.
RESULTS
Among 81 GIST cases, 20 high risk cases (24.7%) were recurred or metastasized. Immunohistochemically, KIT was positive in 76 (93.8%), PDGFRA in 75 (92.7%), and DOG1 in 77 (95.1%). With a cutoff value of 50%, p16 expression was positive in 26 cases were positive (32.1%). A correlation between p16 expression or negative DOG1 expression and recurrence or metastasis was demonstrated (p<0.05). Four cases showed a missense mutation in exon 12 of PDGFRA gene, three of these were of epithelioid GISTs. Two cases showed a silent mutation in exon 18 of PDGFRA.
CONCLUSIONS
These results indicate that the expression of DOG1 and PDGFRA is observed in a majority of GIST cases. Expression of p16 and negative DOG1 expression is predictive for development of recurrence and/or metastasis. Even though mutation of the PDGFRA gene is frequently seen in epithelioid GISTs, a clinicopathologic correlation was not demonstrated.
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