Ganglion-rich gastrointestinal stromal tumor:report of a case and review of literature
YANG Wu-di
XUE Bing
ZHANG Yang
BAI Yue
LI Shi-zhen
ZHANG Ren-ya
MIAO Sen
Abstract：Objective To investigate the clinical pathological features, immunohistochemistry, genetic changes, diagnosis, and differential diagnosis of a special type of gastrointestinal stromal tumor (GIST) with abundant ganglion cells. Methods By analyzing the clinical and pathological data of this special type of GIST combined with a literature review, we analyzed its clinical pathological characteristics and the possibility of the occurrence of ganglion cells. Results A 67-year-old male patient was found to have a submucosal elevation in the descending colon during endoscopy. Grossly, the tumor appeared as an ill-defined gray-white or gray-brown mass measuring 2 cm × 1.5 cm × 1.5 cm, with a slightly tough consistency on sectioning. It showed scattered, evenly distributed neuronal cells within the typical spindle cell type of GIST. Spindle cells expressed CD117, DOG-1, and CD34, while neuronal cells expressed NSE and Syn. Gene sequencing results showed a deletion mutation in exon 11 of C-Kit. The patient had a 6-month postoperative follow-up without recurrence or metastasis. Conclusion This study suggests that the tumor may belong to a rare subtype of GIST that induces proliferation of ganglion cells, but it cannot be completely excluded that it is a ganglion cell tumor differentiated into GIST. Therefore, further research and accumulation of more data from similar cases are needed.
Keywords：Gastrointestinal Stromal TumorCajal Interstitial CellsGanglion CellsDifferential Diagnosis
Publication Date：2025-03-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：5( 319-322,335 )