带有CTNNB1突变的淋巴细胞瘤
Shinji Iwata1, Riko Kitazawa2, Sohei Kitazawa2
1Otolaryngology, Ehime Prefectural Niihama Hospital, Niihama, Japan h447033x@mails.cc.ehime-u.ac.jp.
BMJ case reports
|September 18, 2023
概括
一位老年妇女被诊断出一种罕见的鼻瘤 - - 淋巴管瘤. 识别CTNNB1突变是确认这种性的瘤的诊断的关键.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 耳鼻喉科 耳鼻喉科 耳鼻喉科
背景情况:
- 鼻腔瘤 (GPC) 是一种非常罕见的鼻腔瘤,占所有此类瘤的0.5%以下.
- GPCs的特征是边界恶性到惰性,并与周围血管髓状细胞相关联.
研究的目的:
- 报告一个老年女性患者鼻腔阻塞的Glomangiopericytoma病例.
- 为了突出CTNNB1突变在Glomangiopericytoma的诊断意义.
主要方法:
- 切除的鼻腔隔膜瘤的组织病理学检查.
- 免疫组织化学分析包括标记物,如α-平滑肌肉动蛋白,CD34,β-catenin,cyclin D1,STAT6和Ki-67.
- 基因分析以确定CTNNB1突变.
主要成果:
- 瘤表现出GPC的典型基因病理特征,包括介质细胞和象鹿角的血管系统.
- 免疫组织化学证实了瘤细胞对α-平滑肌动蛋白,CD34,β-catenin和cyclin D1的阳性,基-67指数较低.
- 确定一个特定的CTNNB1突变 (c.94G>C,p.D32H) 对于确诊至关重要.
结论:
- 淋巴细胞瘤是鼻腔的一个罕见的诊断.
- 在GPC中经常观察到CTNNB1突变,对于准确诊断至关重要.
- 内視鏡鼻腔外科手術是鼻腔GPC的有效治療方式.
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