空肠 GIST 的罕见表现:病例报告

Pranjit Kalita, Arnab Gupta, Piyas Sengupta, Samir Bhattacharyya
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摘要

胃肠道间质瘤(GIST)是一种罕见肿瘤,占所有消化道肿瘤的1%。空肠间质瘤是最罕见的亚型。我们为您介绍一位因右下腹疼痛而就诊的中年男性。腹部检查时,在右髂窝(RIF)处可触及肿块。腹部对比增强计算机断层扫描显示回肠有一个腔外软组织肿块。在计算机断层扫描引导下,对肿块进行了核心针刺活检,结果与 GIST 一致,并经免疫组化证实。突变分析显示,该患者的第 11 号外显子发生了突变。由于 GIST 靠近直肠和膀胱,患者开始接受伊马替尼治疗。治疗3个月后,由于出现皮肤反应,不得不停止伊马替尼治疗。通过正电子发射断层扫描对患者进行了重新分期,结果显示患者的软组织肿块可能来自 RIF 中与升结肠相邻的回盲部,但肿块大小并未明显缩小。探查时发现,空肠肠管前缘有一个圆形的移动性管外分叶状肿块。组织病理学检查显示为 GIST,并经免疫组化证实。我们报告该病例是为了强调小肠 GIST 是 RIF 肿块的一个不常见的鉴别诊断。此外,并非所有患者都能耐受伊马替尼治疗,因此外显子突变研究非常重要,如果认为可以切除,则应考虑手术治疗。
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A rare presentation of jejunal GIST: A case report
Gastrointestinal stromal tumors (GISTs) are rare tumors that constitute 1% of all GI tract tumors. Jejunal GISTs are the rarest subtype. We present a middle-aged gentleman, who presented with pain in the right lower abdomen. On abdominal examination, a lump was palpable in the right iliac fossa (RIF). Contrast-enhanced computed tomography of the abdomen revealed an extraluminal soft-tissue mass in the ileum. Computed Tomography-guided core needle biopsy from the lump was consistent with GIST, which was confirmed on immunohistochemistry. Mutation analysis revealed exon 11 mutations. Due to the proximity of GIST to the rectum and urinary bladder, the patient was started on imatinib therapy. After 3 months of treatment, imatinib therapy had to be stopped due to skin reactions. Restaging was done with a positron-emission tomography scan, which demonstrated a soft-tissue mass likely arising from the ileocecal region in the RIF abutting the ascending colon without any significant decrease in size. On exploration, a well-circumscribed mobile extraluminal lobulated mass was seen arising from the antimesenteric border of the jejunum. Histopathologic examination showed GIST, which was confirmed on immunohistochemistry. We report this case to emphasize keeping small bowel GIST as an unusual differential diagnosis of a RIF lump. Furthermore, not all patients can tolerate imatinib treatment, hence exon mutation study is important, and surgery should be considered if it is deemed resectable.
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