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内部EGFR::EGFR.E1E8 融合 (EGFRvIII) 在4331个固体瘤中

Lan Zheng¹, Rajyalakshmi Luthra², Hector A Alvarez²

¹Department of Pathology, The University of Texas MD Anderson Cancer Center, Houston, TX 77030, USA.

|January 11, 2024

概括

皮表皮生长因子受体变异III (EGFRvIII) 是一种罕见的基因变异,主要存在于多种质母细胞瘤中. 这项研究在脑瘤和罕见的乳腺瘤中确定了EGFRvIII,这表明了潜在的治疗点.

科学领域:

在瘤学瘤学.
遗传学遗传学是一个
分子生物学分子生物学

背景情况:

皮表皮生长因子受体变异III (EGFRvIII) 是高度质瘤中常见的瘤驱动因素,由内基因EGFR::EGFR.E1E8融合引起.
除了质瘤之外,EGFRvIII在固体瘤中的患病率和临床意义在很大程度上仍未被描述.

研究的目的:

调查EGFRvIII在广泛的晚期恶性固体瘤中发生的情况.
描述EGFRvIII阳性瘤的临床病理特征和分子格局.

主要方法:

用610基因下一代测序面板测试的高级恶性固体瘤病例 (n=4331) 的回顾性分析.
对EGFRvIII聚变转录的识别和表征.
关联的分子变化和基因病理学发现的审查.

主要成果:

在0.4% (17/4331) 的病例中检测到EGFRvIII,主要是脑瘤 (7%,16/238),特别是IDH野生型质母细胞瘤.
EGFRvIII阳性质母细胞瘤经常与TERT促进子突变 (14/16),EGFR放大 (13/16) 和EGFR突变 (8/16) 一起发生.
在乳腺瘤瘤中发现了一例EGFRvIII病例;在外部检测中发现了另一例类似病例.

结论:

EGFRvIII在先进的固体瘤中是一种罕见的发现,主要与质母细胞瘤有关,并且例外地与乳腺类瘤有关.
EGFRvIII阳性质母细胞瘤的分子概况与已知的瘤性途径一致.
患有EGFRvIII阳性瘤的患者可能代表了有资格接受向抗EGFR疗法或特定化疗的亚群.

关键词:

EGFR::EGFR.E1E8 融合方式欧洲农业基金第八.乳腺肉类瘤瘤的发生.质母细胞瘤 (glioblastoma) 是一种恶性植物瘤瘤.

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