胃上皮质介质瘤与EWSR1::CREM融合基因:一个病例报告
Nao Yoshizawa1, Hirokazu Yamaguchi1, Taichiro Yoshimoto2
1Department of Gastroenterological Surgery, Showa General Hospital, Kodaira, Tokyo, Japan.
Surgical case reports
|April 17, 2025
概括
发现了一种罕见的胃上皮层介质瘤,具有EWSR1::CREM基因融合. 这一发现凸显了由于潜在的恶性病变而导致类似瘤的仔细随访的重要性.
科学领域:
- 在瘤学瘤学.
- 分子病理学分子病理学
- 胃肠病学 胃肠病学
背景情况:
- 最近的进展已经确定了新的分子瘤组,包括那些由基因融合驱动的.
- 涉及cAMP响应元素调制器 (CREM) 和尤宁肉瘤断点区域1 (EWSR1) 的基因融合与各种瘤类型有关.
- 带有EWSR1::CREM融合的甲状腺介质瘤很少见,但需要识别.
研究的目的:
- 报告一种罕见的胃上皮层介质瘤病例.
- 为了突出这一瘤中存在EWSR1::CREM基因融合.
- 强调在类似的情况下需要谨慎和后续行动.
主要方法:
- 一名58岁的男性出现了胃上部疼痛和下部胃瘤.
- 消化管胃腺镜检查显示出一个出血的粘膜下瘤,需要手术切除.
- 组织病理学检查和分子咨询诊断出一个带有EWSR1::CREM融合的介质瘤.
主要成果:
- 从胃体上部切除了一个40x30毫米的粘膜下瘤.
- 组织学显示了质素阳性上皮质细胞的扩散.
- 该瘤的分子特征是具有EWSR1::CREM基因融合.
结论:
- 鉴定出一种罕见的胃上皮层介质瘤,其中含有EWSR1::CREM融合基因.
- 在胃和腹腔的类似瘤中报告了恶性病程.
- 诊断出这种瘤的患者需要仔细的随访.
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