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突变的ASXL1在带有纤维肌瘤的细胞癌中升级调节mTOR表达

Yang Liu¹, Luting Zhou¹, Haimin Xu¹

¹Department of Pathology, Shanghai Jiaotong University Medical School Affiliated Ruijin Hospital, Number 197, Ruijin Er Road, Huangpu District, Shanghai, China.

Virchows Archiv : an international journal of pathology

|December 15, 2023

概括

这项研究报告了一种罕见的细胞癌与纤维肌瘤 (RCC FMS) 病例. 这表明改变的mTOR表达,而不仅仅是基因突变,可能会推动RCC FMS的发展.

科学领域:

在瘤学瘤学.
尿路病理学尿路病理学
分子病理学分子病理学

背景情况:

带有纤维肌瘤的细胞癌 (RCC FMS) 是一个新兴的实体.
RCC FMS的特点是特定的细胞形态,CK7免疫阳性,并且经常有ELOC或TSC/mTOR基因突变.
2022年世界卫生组织分类认可ELOC突变的RCC作为一个独特的实体,但RCC FMS中的TSC/mTOR变化描述较少.

研究的目的:

报告一个年轻女子RCC FMS的独特病例.
为了研究RCC FMS的分子基础,超越已知的基因突变.
探索mTOR信号在RCC FMS病变发生中的作用.

主要方法:

一个28岁的女性患者的病例报告,诊断出RCC FMS.
基因分析以确定ELOC,TSC/mTOR和ASXL1基因中的突变.
在瘤细胞中对mTOR表达的免疫组织化学评估.

主要成果:

该患者的RCC FMS病例具有完整的ELOC和TSC/mTOR基因,但具有ASXL1突变.
瘤细胞显示出积极的mTOR表达.
这一发现扩大了对RCC FMS分子变化的理解.

结论:

改变的mTOR表达,独立于TSC/mTOR基因突变,可能会导致RCC FMS的发病.
这一案例凸显了罕见瘤中分子变化的复杂性.
需要进一步的研究来阐明RCC FMS中分子驱动因素的全谱.

关键词:

美国证券交易所ASXL1 纤维肌质性流体.细胞癌是细胞癌.在mTOROR中使用mTOR.

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