针对性ERBB2/HER2突变在妇科恶性瘤中:临床病理学,免疫组织化学和分子相关性
Padmini A Manrai1, Austin McHenry1, Tong Sun1
1Department of Pathology, Yale School of Medicine, New Haven, CT.
概括
这项研究表明,ERBB2/HER2突变存在于各种妇科癌症中,通常没有HER2过度表达,这表明需要比目前针对向治疗的建议更广泛的测试.
科学领域:
- 妇科瘤学 妇科瘤学
- 分子病理学分子病理学
- 精准医学是一门精准的医学.
背景情况:
- 针对性抗HER2治疗现在推用于子宫内膜血清癌,需要HER2测试.
- 临床试验表明,抗HER2药物在各种癌症中对ERBB2/HER2突变有效.
- 法姆-特拉斯图祖马布德鲁克斯泰坎已被批准用于治疗HER2突变非小细胞肺癌.
研究的目的:
- 评估ERBB2/HER2突变的妇科恶性瘤的临床,组织形态学,免疫组织化学和分子特征.
- 识别特定的突变模式及其与临床病理特征的关联.
- 为未来的病理学测试建议和临床治疗策略提供信息.
主要方法:
- 从部门档案中对16种患有ERBB2/HER2突变的妇科瘤进行了回顾性分析.
- 详细的组织形态学,免疫组织化学 (HER2 IHC) 和分子分析 (包括突变分析).
- 在cBioportal数据库查询一个更大的ERBB2 / HER2突变妇科瘤队列.
主要成果:
- 16个瘤 (11个子宫内膜,2个子宫内膜,1个卵巢,1个卵巢管,1个子宫内膜) 携带了19个ERBB2/HER2突变,主要在氨酸激酶域 (52.6%).
- 最常见的突变是R678Q (31.6%). 超过一半的子宫内膜癌是MMR缺乏 (MSH6损失).
- 在67%的患者中,HER2 IHC是负的 (0或1+),在33%的患者中是模糊的 (2+);没有一个是3+的. 与特定突变和重新排列相关的模两可的得分. c生物门口分析显示了70个ERBB2/HER2突变瘤,其中77个突变,通常在活性部位 (46.8%),S310F是常见的 (26%).
结论:
- ERBB2/HER2突变发生在各种妇科癌症中,经常没有HER2过度表达或放大.
- 像R678Q和S310F这样的特定突变是常见的,并且可能可以通过抗HER2疗法向.
- 这些发现支持扩大对妇科恶性瘤ERBB2/HER2突变的诊断测试,以指导治疗决策.
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