Division of Medical Oncology, Department of Oncology, Western University, London, ON N6A 3K7, Canada.
Division of Molecular Diagnostics, Western University, London, ON N6A 3K7, Canada.
Curr Oncol. 2023 Oct 6;30(10):9039-9048. doi: 10.3390/curroncol30100653.
We present a fascinating case of a 57-year-old male with a novel mutation in MLH1 (), who presented with two synchronous colonic tumours, initially deemed unresectable, and experienced a complete pathological response on neoadjuvant pembrolizumab. Extensive genetic testing revealed post-zygotic mosaicism from the novel mutation.
我们呈现了一个非常有趣的病例，一名 57 岁男性 MLH1() 中存在新突变，他最初表现为两个同时性结肠肿瘤，最初认为不可切除，但在新辅助帕博利珠单抗治疗后完全病理缓解。广泛的遗传检测显示该新突变来自合子后镶嵌现象。
