Photo from Osama Mosalem/X
May 31, 2024, 09:54
Osama Mosalem: Prevalence and genomic characteristics of POLE/POLD1 mutations in colon cancer
Osama Mosalem, Hematology Oncology fellow at Mayo Clinic, shared a post on X:
”Check out our publication on the prevalence and genomic characteristics of POLE/POLD1 mutations in colon cancer.
- 9,136 CRC samples from Tempus.
- Incidence of POLE/POLD1 mutations was 2.4% in our study.
- However, only 18% of POLE/POLD1 cases (0.4 % of total) were short variant mutations and those were the ones who had the ultra hypermutated phenotype, a median TMB of 159 Mutation/Mb.
- As you can see in the figuration, there was a stark difference in the TMB.
- Identifying these patients with SVs is crucial as they are likely the ones who will benefit significantly from ICIs.
- Some of the studies that highlighted responses of POLE/POLD1m CRC to ICIs.”
Source: Osama Mosalem/X