Mai Nicholas, Chen Jie-Fu, Rana Satshil, Robson Mark, Chandarlapaty Sarat, Rosen Ezra Y
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
NPJ Precis Oncol. 2024 Jul 28;8(1):162. doi: 10.1038/s41698-024-00631-9.
Simultaneous presentation of two separate primary breast cancers of differing histology at initial diagnosis is an uncommon phenomenon; it is even rarer to find these pathologically distinct populations within the same biopsy. Here we report the case of a patient diagnosed with clearly demarcated, pathologically heterogenous triple negative breast cancer (TNBC) and HER2+ breast cancer that was treated with a hybrid chemoimmunotherapy regimen combining elements of Keynote-522 and a standard HER2-directed neoadjuvant regimen, yielding apathologic complete response by the time of surgery with no notable adverse events. Molecular analysis of the histologically distinct tumor populations confirmed molecular evidence of differential HER2 expression but also suggested clonal relatedness of the two tumor populations based upon mutational profile, with phenotypic divergence potentially resulting from copy number alterations in NF1. Overall, this case highlights a rare histologic phenomenon that was successfully treated by combining both TNBC and HER2 directed neoadjuvant therapies.
在初次诊断时同时出现两种不同组织学类型的原发性乳腺癌是一种罕见现象；在同一活检样本中发现这些病理上不同的肿瘤群体则更为罕见。在此，我们报告一例患者，其被诊断为界限清晰、病理异质性的三阴性乳腺癌（TNBC）和HER2阳性乳腺癌，采用了一种混合化疗免疫治疗方案，该方案结合了Keynote-522的要素和标准的HER2导向新辅助治疗方案，在手术时实现了病理完全缓解，且无明显不良事件。对组织学上不同的肿瘤群体进行分子分析，证实了HER2表达差异的分子证据，但也基于突变谱提示这两个肿瘤群体存在克隆相关性，其表型差异可能源于NF1的拷贝数改变。总体而言，该病例突出了一种罕见的组织学现象，通过联合TNBC和HER2导向的新辅助治疗成功得到了治疗。
