富马酸酸酶缺乏细胞癌:瘤护理机构的经验
Meenakshi Kamboj1, Gurudutt Gupta1, Sunil Pasricha1
1Department of Histopathology and Cytopathology, Rajiv Gandhi Cancer Institute & Research Centre, Delhi, India.
概括
富马酸酸酶 (FH) 缺陷细胞癌 (RCC) 是一种与FH基因变异相关的侵袭性癌症. 免疫组织化学标志物如FH和S-(2-succino) -cysteine (2-SC) 有助于诊断这种罕见但危险的瘤.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 遗传学 遗传学 是一个
背景情况:
- 细胞癌 (RCC) 占全球癌症诊断的2%,大多数病例是零星的.
- 2022年世界卫生组织分类将缺乏烟酸酸酶 (FH) 的RCC确定为一个独特的分子实体.
- 缺乏FH的RCC是由FH基因变异引起的,与遗传性肌瘤和细胞癌 (HLRCC) 综合征有关,并呈现出侵略性.
研究的目的:
- 报告一系列10个缺乏FH的RCC病例.
- 描述FH缺乏RCC的形态和免疫组织化学特征.
- 突出诊断标志物和FH缺乏RCC的临床管理建议.
主要方法:
- 对10名FH缺乏的RCC患者进行了回顾性病例系列分析.
- 瘤结构和细胞特征的形态评估.
- 免疫组织化学 (IHC) 对于FH和S-(2-succino) -cysteine (2-SC) 的表达.
主要成果:
- 这10例病例呈现出晚期 (III/IV) 疾病,平均年龄为49.8岁.
- 形态学发现包括多样化的建筑图案和具有周核 halos 的特征性埃索诺菲尔巨核细胞.
- 在所有病例中,IHC显示了扩散的核细胞质2-SC表达,在7例中显示了FH损失.
结论:
- 缺乏FH的RCC是一种需要准确诊断的侵袭性瘤.
- 针对FH和2-SC的免疫组织化学是有价值的诊断工具.
- 诊断为FH缺乏RCC的患者应考虑进行生殖系FH突变测试,遗传咨询和家庭成员监测.
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