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[Ultrastructural features and platelet-derived growth factor receptor A gene mutations in CD117-negative
Yi-ning Xiang1, Dong-xia Gao, Hui-ying He
1Department of Pathology, Peking University Health Science Center, Beijing 100083, China.
Objective:
To explore the ultrastructural features and mutation status of platelet-derived growth factor receptors A (PDGFRA) and c-kit in gastrointestinal stromal tumors that were immunohistochemically negative for CD117 antigen.
Methods:
Six cases of gastrointestinal stromal tumors that were CD117 immunostain negative were studied by electron microscopy. Direct PCR sequencing was used to investigate the mutation status of c-kit gene exons 9, 11, 13, 17 and PDGFRA gene exons 12 and 18.
Results:
The ultrastructural features of all 6 cases were similar to those of the interstitial cell of Cajal (ICC). None of the 6 cases were found to have c-kit gene mutations. However, three tumors were found to harbor PDGFRA exon 18 activating mutations, including two tumors having an Asp-->Val842 missense mutation and one having an Arg-->Ser841 missense mutation.
Conclusions:
PDGFRA mutations may provide an important alternative molecular mechanism for the development of gastrointestinal stromal tumor.
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