%0 Journal Article
%T STK11 p.G270W: A Novel Mutation Detected in a Case of MSI High Mixed Medullary¨CMucinous Carcinoma of the Transverse Colon
%A ANTHONY MAGLIOCCO
%A DAHUI QIN
%A DAPENG WANG
%A DOMENICO COPPOLA
%A ELENA RYZHOVA
%A JAMES SALLER
%A MOHAMMAD SHAHID
%J Archive of "Cancer Genomics & Proteomics".
%D 2019
%R 10.21873/cgp.20131
%X Background/Aim: To report a case of mixed medullary/mucinous adenocarcinoma with unusual mutational gene profile. Patients and Methods: A 79-year-old female was diagnosed with a colorectal carcinoma of the transverse colon. The diagnostic work-up of this case included thorough clinicopathological evaluation, immunohistochemistry and next generation Sequencing. Results: The clinicopathological evaluation showed a tumor with morphological features of both medullary and mucinous colorectal carcinoma. Immunohistochemistry revealed the loss of DNA mismatch repair proteins. NGS showed that the medullary component of this tumor had a novel STK11 p.G270W mutation, which was not present in the mucinous component. Both the medullary and mucinous components also had BRAF V600E and AKT1 (pE17K) mutations. Conclusion: We report a novel mutation STK11 (p.G270W), in medullary carcinoma of the colon with an associated mucinous component
%K Colon cancer
%K MSI
%K medullary
%K mucinous
%K STK11
%K mutation
%U https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609257/