[在Her2-低乳腺癌中PIK3CA基因突变的特征]
I A Pavlenko1, P E Povilaitite1, N S Makarevich1
1Rostov Regional Bureau of Pathology, Rostov-on-Don, Russia.
Arkhiv patologii
|August 2, 2023
概括
皮克3CA基因突变在激素阳性,赫尔2阴性乳腺癌 (BC) 中很常见. 在Her2-low BC中,Exon 9突变的频率明显高,这表明这是一个独特的BC亚型.
科学领域:
- 在瘤学瘤学.
- 分子生物学分子生物学
- 遗传学 是一个遗传学.
背景情况:
- 在乳腺癌 (BC) 中,PIK3CA基因突变激活PI3K/AKT/mTOR通路.
- 检测PIK3CA突变可以预测荷尔蒙阳性,Her2-阴性BC中对alpelisib的反应.
- 荷尔蒙阳性,赫尔2阴性BC根据赫尔2 / neu表达水平进行分类:低 (IHC 1+; 2+,ISH-) 或不存在 (IHC 0).
研究的目的:
- 为了研究Her2-low BC和缺少Her2/neu表达的BC之间的PIK3CA突变特征的差异.
- 确定Her2/neu表达状态是否影响激素阳性BC.中的PIK3CA突变模式.
主要方法:
- 实时PCR用于分析96个荷尔蒙阳性,Her2-阴性BC组织样本中的PIK3CA突变.
- 在商用 cobas PIK3CA 突变套件上,它安装在 cobas z480 分析器上,可轻松检测突变.
主要成果:
- 在研究的BC病例中,41.6% (40/96) 发现了PIK3CA突变.
- 突变主要发生在第9个外显子 (酶域) 和第20个外显子 (酶域) 中.
- 异构9突变 (p.E542K,p.E545X) 在Her2-low BC中比缺乏Her2/neu表达的瘤 (p<0.05) 频率高2.6倍.
结论:
- 较高频率的PIK3CA异构9突变是Her2-low BC的特征.
- 这些发现支持将Her2-low BC归类为需要进一步调查的独特实体.
- 了解与Her2表达相关的PIK3CA突变概况对于向治疗的选择至关重要.
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