Heterogeneous constitutional mismatch repair deficiency with MSH6 missense mutation clinically benefits from pembrolizumab and regorafenib combination therapy: a case report and literature review.

Tong XieQin FengZhongwu LiMing LuJian LiAnalyn LizasoJianxing XiangLu ZhangLin ShenZhi Peng

Published in: Hereditary cancer in clinical practice (2021)

Our case reported a CMMRD patient with heterogeneous MMR results who showed complicated response to ICIs, highlighting the importance of accurate diagnosis using targeted sequencing with multiple specimens to reveal the possible mechanism of response to ICI in patients with CMMRD.

Keyphrases

combination therapy
single cell
case report
intellectual disability
cancer therapy
high resolution
advanced non small cell lung cancer
metastatic colorectal cancer
replacement therapy
mass spectrometry
epidermal growth factor receptor
smoking cessation