双重作用：新突变体马赛克对新辅助派姆单抗的两个结直肠原发灶的完全病理反应。
Double Duty: Complete Pathologic Response of Two Colonic Primaries with Mosaicism of a Novel Mutation to Neoadjuvant Pembrolizumab.
机构信息
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.
出版信息
Curr Oncol. 2023 Oct 6;30(10):9039-9048. doi: 10.3390/curroncol30100653.
Abstract
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.
摘要
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。
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