携带HER2 V842I突变的转移性膀胱尿路上皮癌患者对吡咯替尼的反应：一例报告
Response to Pyrotinib in a Patient with Metastatic Bladder Urothelial Carcinoma Harboring HER2 V842I Mutation: A Case Report.
作者信息
Li Suyao, Liu Qing, Liu Mengling, Liu Tianshu
机构信息
Department of Medical Oncology, Zhongshan Hospital, Fudan University, Shanghai, People's Republic of China.
Cancer Center, Zhongshan Hospital, Fudan University, Shanghai, People's Republic of China.
出版信息
Cancer Manag Res. 2022 Sep 29;14:2927-2932. doi: 10.2147/CMAR.S365951. eCollection 2022.
BACKGROUND
The highest incidence of human epidermal growth factor receptor 2 (HER2) mutations has been observed in bladder cancer (BC). However, the function of HER2 mutation in tumor progression and metastasis remains unclear. Currently, no responses to the pan-HER kinase inhibitor were observed in HER2-mutant BC.
CASE PRESENTATION
We described a patient with metastatic bladder urothelial carcinoma (BUC) carrying a HER2 V842I mutation both in circulating tumor DNA (ctDNA) and biopsy sample. The patient was then treated with a HER2 tyrosine kinase inhibitor, pyrotinib, and responded well. However, the targeting treatment was terminated due to G3 diarrhea. Reduced dose of pyrotinib was later added to late-line treatment, the patient's tumor again responded with a significant decrease in CA199.
CONCLUSION
This is the first reported case of HER2 V842I mutation successfully treated with pyrotinib in BUC, suggesting pyrotinib therapy might serve as a therapeutic option for BUC patients harboring HER2 activating mutation.
背景
在膀胱癌（BC）中观察到人类表皮生长因子受体2（HER2）突变的发生率最高。然而，HER2突变在肿瘤进展和转移中的作用仍不清楚。目前，HER2突变型BC对泛HER激酶抑制剂无反应。
病例报告
我们描述了一名转移性膀胱尿路上皮癌（BUC）患者，其循环肿瘤DNA（ctDNA）和活检样本中均携带HER2 V842I突变。该患者随后接受HER2酪氨酸激酶抑制剂吡咯替尼治疗，反应良好。然而，由于3级腹泻，靶向治疗终止。后来在晚期治疗中加入了降低剂量的吡咯替尼，患者的肿瘤再次出现反应，CA199显著下降。
结论
这是首例在BUC中用吡咯替尼成功治疗HER2 V842I突变的病例报告，表明吡咯替尼治疗可能是携带HER2激活突变的BUC患者的一种治疗选择。
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