Abstract
Gastrointestinal stromal tumor (GIST) is the most common mesenchymal tumor of the digestive tract. The diagnosis of GIST relies mainly on clinicopathological features, tumor cell morphology and immunohistochemical marker CD117 (c-Kit). However, some tumors (about 3%-4%) have clinicopathological features of GIST but do not express CD117. To determine whether these lesions are true GIST, it is necessary to raise awareness of CD117-negative GIST. This article discusses the immunohistochemical features, gene mutations, prognosis and efficacy of targeted drugs of CD117-negative GIST. Research results suggest that CD117-negative GIST lacks KIT expression but has typical clinical, histopathological and cytogenetic features. These tumors have KIT and/or PDGFRA mutations, or are wild type. Because most KIT-negative GISTs contain PDGFRA or KIT mutation, pathologists and oncologists should not exclude GIST diagnosis based on negative immunohistochemical staining of KIT. It is known that approximately 30% of PDGFRA mutations may be sensitive to imatinib, and patients with such tumors may benefit from imatinib, so imatinib treatment should not be empirically denied in these patients.
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Schedule a callMore From: Zhonghua wei chang wai ke za zhi = Chinese journal of gastrointestinal surgery
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