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• W4313880172 abstract "Objective: To investigate the clinical significance of pathological diagnosis and genetic abnormalities detection of gastrointestinal stromal tumor (GIST) using endoscopic biopsy. Methods: Patients 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. Results: Totally 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. Conclusions: Endoscopic 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.目的： 探讨胃肠间质瘤（gastrointestinal stromal tumor，GIST）活检病理诊断和基因检测的临床意义。 方法： 收集复旦大学附属中山医院病理科2016年1月1日至2021年8月1日内镜活检确诊GIST病例，复阅HE切片、整理免疫组织化学、基因检测结果，记录临床治疗经过。 结果： 共计检索出GIST诊断记录4 095例，其中内镜活检发现肿瘤组织67例，占比1.6%。男性48例，女性19例，男女比2.5∶1.0；年龄31~90岁，平均61岁；胃59例，十二指肠8例。梭形细胞型47例，上皮样型14例，混合细胞型6例。免疫组织化学DOG1阳性100.0%（64/64），CD117阳性98.4%（62/63），CD34阳性87.5%（56/64），S-100蛋白阳性3.6%（2/56），α-平滑肌肌动蛋白（α-SMA）阳性12.1%（7/58），结蛋白阳性12.3%（7/57），广谱细胞角蛋白（CKpan）阳性4.0%（2/50）。依据形态学评估34例可归为恶性GIST。初诊考虑为低分化癌3例，均为上皮样型GIST，另有4例梭形细胞型GIST由于肿瘤细胞数量较少，初诊时无法明确或漏诊。在67例病例中，26例活检组织行基因检测，检测率38.8%（26/67），活检后2例患者失访；33例直接手术，手术患者仅2例活检组织行基因检测，检测率6.1%（2/33）；16例行甲磺酸伊马替尼治疗及手术，这部分患者10例活检组织行基因检测，检测比例10/16；16例持续甲磺酸伊马替尼治疗患者中，14例活检组织行基因检测，检测比例14/16。 结论： 内镜活检诊断GIST的比例很低，对于绝大多数的活检材料是能够完成准确的病理诊断和辅助检查以指导临床治疗。上皮样型GIST有迷惑性，梭形细胞型GIST少数易漏诊，了解病史、查看内镜记录有助于避免陷阱。行分子靶向治疗者，完善基因检测，可为临床治疗决策提供更多有价值的信息。." @default.
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• W4313880172 date "2023-01-08" @default.
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• W4313880172 title "[Clinical significance of pathological diagnosis and genetic abnormalities detection in gastrointestinal stromal tumor using endoscopic biopsy]." @default.
• W4313880172 doi "https://doi.org/10.3760/cma.j.cn112151-20220524-00440" @default.
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