携带相同PIK3CA突变的乳腺癌和大细胞神经内分泌癌:一个病例报告
Emma Zattarin1,2, Teresa Beninato3, Giorgia Di Liberti3
1Department of Oncology and Hematology, Azienda Ospedaliero-Universitaria di Modena, Modena, Italy.
Tumori
|July 16, 2025
概括
分子分析揭示了一个患者共享的PIK3CA变体.
科学领域:
- 在瘤学瘤学.
- 分子诊断学 分子诊断学
- 精准医学是一门精准的医学.
背景情况:
- 从诊断上来说,将转移性复发与第二次原发性恶性瘤区分开来是具有挑战性的.
- 精准医学有助于澄清复杂的癌症病例.
- 一名患者出现了荷尔蒙受体阳性,HER2-阴性乳腺癌的病史.
研究的目的:
- 为了研究患者的原发性乳腺癌和随后的中质块之间的关系.
- 为了确定中质量是否代表了复发或明显的初级瘤.
- 探索分子表征在非典型癌症呈现中的实用性.
主要方法:
- 一名2012年被诊断为乳腺癌的患者在2021年出现了中质.
- 组织学分析揭示了中中高度大细胞神经内分泌癌 (LCNEC) 的发生.
- 在两种瘤组织上进行了下一代测序,以确定共享的分子变化.
主要成果:
- 中间体LCNEC缺乏乳腺癌标志物,但表达PD-L1并具有中度的瘤突变负担.
- 化疗最初失败了,但潘布罗利祖马布治疗导致了显著和持久的反应.
- 在初级乳腺癌和LCNEC中发现了共享的PIK3CA致病变体,这表明了潜在的克隆关系.
结论:
- 分子分析确定了不同组织学和病人的瘤位置之间的潜在因果关系.
- 这一案例凸显了分子表征在理解复杂的瘤情景中的重要性.
- 这些发现提供了关于转移性乳腺癌或共同起源的神经内分泌分化潜力的见解.
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