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

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

Abstract Background Germline DNA mismatch repair (MMR) gene aberrations are associated with colorectal cancer (CRC) predisposition and high tumor mutation burden (TMB-H), with increased likelihood of favorable response to immune checkpoint inhibitors (ICIs). Case presentation We present a 32-year ol...

Full description

Bibliographic Details
Main Authors: Tong Xie, Qin Feng, Zhongwu Li, Ming Lu, Jian Li, Analyn Lizaso, Jianxing Xiang, Lu Zhang, Lin Shen, Zhi Peng
Format: Article
Language:English
Published: BMC 2021-01-01
Series:Hereditary Cancer in Clinical Practice
Subjects:
CMMRD
MSH6
Heterogeneity
ICI
Case report
Online Access:https://doi.org/10.1186/s13053-021-00165-2

Internet

https://doi.org/10.1186/s13053-021-00165-2

Similar Items