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酷似神经束膜瘤的胃肠道间质瘤:一例报告

Gastrointestinal stromal tumor mimicking perineurioma: A case report.

作者信息

Pan Yu, Gao Yuan, Yang Ping, Yu Guohua

机构信息

School of Clinical Medicine, Shandong Second Medical University, Weifang, China.

Department of Pathology, Affiliated Yantai Yuhuangding Hospital, Qingdao University, Yantai, China.

出版信息

Cytojournal. 2024 Nov 23;21:51. doi: 10.25259/Cytojournal_104_2024. eCollection 2024.

Abstract

Although gastrointestinal stromal tumor (GIST) can present with various histological characteristics, GIST mimicking perineurioma has not been previously reported. We present the case of a 47-year-old woman diagnosed with GIST after laparoscopic resection of a stomach tumor near the lesser curvature of the gastric body close to the cardia. Morphological features resembled a perineurioma. c.1504_1509 (p.A502_Y503) duplication was found in exon 9 of kinase insert domain receptor (c-KIT). This specific mutation is associated with constitutive activation of the c-KIT, which is crucial in the pathogenesis of GIST. Such unique histological characteristics broaden our understanding of the morphological diversity within GISTs and underscore the importance of considering an extended differential diagnosis when encountering atypical gastrointestinal tumors. This rare presentation may challenge conventional diagnostic criteria and could influence therapeutic strategies, emphasizing the need for comprehensive histological and molecular assessments in patient management.

摘要

尽管胃肠道间质瘤(GIST)可呈现出多种组织学特征,但此前尚未有GIST酷似神经束膜瘤的报道。我们报告了一例47岁女性病例,该患者在腹腔镜下切除胃体小弯侧靠近贲门处的胃肿瘤后被诊断为GIST。其形态学特征类似神经束膜瘤。在激酶插入结构域受体(c-KIT)的第9外显子中发现了c.1504_1509(p.A502_Y503)重复。这种特定突变与c-KIT的组成性激活有关,而c-KIT的组成性激活在GIST的发病机制中至关重要。这种独特的组织学特征拓宽了我们对GIST形态学多样性的认识,并强调了在遇到非典型胃肠道肿瘤时考虑进行广泛鉴别诊断的重要性。这种罕见的表现可能会挑战传统诊断标准,并可能影响治疗策略,强调了在患者管理中进行全面组织学和分子评估的必要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/f2b2/11683401/e5a5a9bb47c0/Cytojournal-21-51-g001.jpg

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