TY - JOUR T1 - STK11 p.G270W: A Novel Mutation Detected in a Case of MSI High Mixed Medullary–Mucinous Carcinoma of the Transverse Colon JF - Cancer Genomics - Proteomics JO - Cancer Genomics Proteomics SP - 267 LP - 272 DO - 10.21873/cgp.20131 VL - 16 IS - 4 AU - MOHAMMAD SHAHID AU - DAPENG WANG AU - JAMES SALLER AU - ELENA RYZHOVA AU - DAHUI QIN AU - ANTHONY MAGLIOCCO AU - DOMENICO COPPOLA Y1 - 2019/07/01 UR - http://cgp.iiarjournals.org/content/16/4/267.abstract N2 - 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. ER -