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

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 old male...

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Detalles Bibliográficos
Autores principales: Xie, Tong, Feng, Qin, Li, Zhongwu, Lu, Ming, Li, Jian, Lizaso, Analyn, Xiang, Jianxing, Zhang, Lu, Shen, Lin, Peng, Zhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797131/
https://www.ncbi.nlm.nih.gov/pubmed/33422121
http://dx.doi.org/10.1186/s13053-021-00165-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7797131/
https://www.ncbi.nlm.nih.gov/pubmed/33422121
http://dx.doi.org/10.1186/s13053-021-00165-2

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