Gastrointestinal stromal tumor mimicking perineurioma: A case report.

IF 2.5 4区 医学 Q2 PATHOLOGY Cytojournal Pub Date : 2024-11-23 eCollection Date: 2024-01-01 DOI:10.25259/Cytojournal_104_2024
Yu Pan, Yuan Gao, Ping Yang, Guohua Yu
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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.

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模仿会厌瘤的胃肠道间质瘤:病例报告
虽然胃肠道间质瘤(GIST)可以呈现各种组织学特征,但胃肠道间质瘤模拟神经周围瘤以前尚未报道。我们提出的情况下,47岁的妇女诊断为胃肠道间质瘤后腹腔镜切除胃小弯附近的胃体靠近心脏。形态特征类似于会膜瘤。在激酶插入结构域受体(c-KIT)的第9外显子中发现c.1504_1509 (p.A502_Y503)重复。这种特异性突变与c-KIT的组成性激活有关,这在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胃肠道间质瘤形态学多样性的理解,并强调了在遇到非典型胃肠道肿瘤时考虑扩展鉴别诊断的重要性。这种罕见的表现可能挑战传统的诊断标准,并可能影响治疗策略,强调在患者管理中需要全面的组织学和分子评估。
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来源期刊
Cytojournal
Cytojournal PATHOLOGY-
CiteScore
2.20
自引率
42.10%
发文量
56
审稿时长
>12 weeks
期刊介绍: The CytoJournal is an open-access peer-reviewed journal committed to publishing high-quality articles in the field of Diagnostic Cytopathology including Molecular aspects. The journal is owned by the Cytopathology Foundation and published by the Scientific Scholar.
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