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COL1A1::PDGFB融合子宫肉瘤具有TERT促进体突变

Yang Lu¹, Xinyi Chen², Wenjing Zeng³

¹Department of Pathology, West China Hospital, Sichuan University, Chengdu, China.

Genes, chromosomes & cancer

|October 23, 2023

概括

这项研究详细介绍了一个罕见的COL1A1::PDGFB融合子宫肉瘤病例. 确定了一种TERT促进子突变,代表了这种罕见的子宫瘤中的新型遗传发现.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
病理学病理学病理学

背景情况:

COL1A1::PDGFB融合子宫肉瘤是一种罕见的介质细胞瘤.
它与软组织皮质纤维瘤突起体具有共同的特征,使诊断复杂化.
关于其各种临床病理学和遗传特征的数据有限.

研究的目的:

为了呈现一种COL1A1::PDGFB融合阳性子宫肉瘤的病例.
描述其组织学,免疫组织化学和遗传特征.
报告在这种罕见的瘤类型中发现了一种新的遗传发现.

主要方法:

瘤组件的组织病理学检查.
对CD34和p53的免疫组织化学.
光在位杂交 (FISH) 和下一代测序 (NGS) 用于基因融合检测.
对TERT促进体突变的遗传分析.

主要成果:

瘤显示出高度纤维沙瘤/肌纤维沙瘤类和低度故事形区域.
免疫组织化学检查显示,各组件之间的CD34和p53表达有差异.
COL1A1::PDGFB融合得到了FISH和NGS的证实.
在两种瘤组件中都发现了一种TERT促进子突变 (TERT-124 C>T).

结论:

这是首个报告的COL1A1::PDGFB融合子宫肉瘤与TERT促进体突变的病例.
这一遗传发现可能有助于理解子宫肉瘤瘤的产生.
准确的诊断需要意识到各种表现和遗传改变.

关键词:

COL1A1::PDGFB的融合方式纤维沙性瘤的形态学在TERT-124 C > T C > T 宫的子宫可以子宫肉瘤子宫肉瘤

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