Original Article
Clinical significance of pathological diagnosis and genetic abnormalities detection in gastrointestinal stromal tumor using endoscopic biopsy
Yuan Wei, Huang Wen, Ren Lei, Du Xiangyang, Liang Huaiyu, Hu Jianwei, Xu Chen, Hou Yingyong
Published 2023-01-08
Cite as Chin J Pathol, 2023, 52(1): 31-36. DOI: 10.3760/cma.j.cn112151-20220524-00440
Abstract
ObjectiveTo investigate the clinical significance of pathological diagnosis and genetic abnormalities detection of gastrointestinal stromal tumor (GIST) using endoscopic biopsy.
MethodsPatients with GIST diagnosed by endoscopic biopsy (from January 1st, 2016 to August 1st, 2018, at Zhongshan Hospital, Fudan University) were included in this study. This retrospective study evaluated the histopathologic and immunohistochemical (IHC) features, genetic abnormalities of the tumors and the treatment and clinical course of the patients.
ResultsTotally 4 095 cases of GIST were collected, among which 67 patients (67/4 095, 1.6%) underwent endoscopic biopsy. Forty-eight patients (71.6%) were male and 19 (28.4%) were female, with a mean age of 61 years (range 31-90 years). Fifty-nine lesions were located in stomach and eight in duodenum. Of all the 67 cases, 47 were spindle type, 14 were epithelioid type, and 6 mixed type. IHC staining showed the positive rates were 100.0% (64/64) for DOG1, 98.4% (62/63) for CD117, 87.5% (56/64) for CD34, 3.6% (2/56) for S-100 protein, 12.1% (7/58) for α-SMA, 12.3% (7/57) for desmin and 4.0% (2/50) for CKpan. Morphologically, 34 cases were malignant; three cases (all epithelioid type) were originally misdiagnosed as poorly differentiated carcinoma; missed-diagnosis were found in four cases (spindle type) due to the insufficient diagnostic tumor cells. The genetic abnormality detection rate in the biopsy tissue was 38.8% (26/67),among them two patients were lost to follow up after biopsy, 33 patients received surgical resection, 16 cases underwent operation after neoadjuvant therapy and 16 patients with advanced disease underwent continuous imatinib therapy, with the genetic testing rate of 6.1% (2/33), 10/16 and 14/16, respectively.
ConclusionsEndoscopic biopsy is a useful but rare method for the preoperative diagnosis of GIST. For majority of biopsy, accurate pathological diagnosis and auxiliary examination can be completed to guide clinical treatment. A thorough history in combination with endoscopic finding is essential to avoid misdiagnosis (epithelioid type) and missed diagnosis (spindle type) in suspicious cases. Genetic testing should be recommended in patients who will undergo targeted therapy after endoscopic biopsy, and it can provide valuable information and guidance for clinical treatment.
Key words:
Gastrointestinal stromal tumors; Endoscopy, gastrointestinal; Biopsy; Gene expression; Genes, neoplasm
Contributor Information
Yuan Wei
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Huang Wen
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Ren Lei
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Du Xiangyang
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Liang Huaiyu
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Hu Jianwei
Department of Endoscopic Center, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Xu Chen
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
Hou Yingyong
Department of Pathology, Zhongshan Hospital, Fudan University, Shanghai 200032, China
