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- W4249091036 abstract "Abstract Background: Mucinous adenocarcinoma (MAC) is a distinct type of colorectal cancer (CRC) associated with poor response to treatment and poorer prognosis. MAC is diagnosed by WHO definition when the extracellular mucin is more than 50% of the lesion. We aimed at assessing the gene expression profiles of the CRCs with any mucinous features (>5%) in a retrospective study. Methods: The data of a 50-gene next generation sequencing (NGS) panel of 166 CRCs was analyzed and the gene mutational profile with morphologic features was correlated. Results: We identified the different genetic mutation profiles between CRCs with and without mucinous component, but noticed a similar genetic profile between MACs and CRCs with mucinous component, irrespective of the percentage (if mucin component more than 5%). The different genetic mutation profile related to MSI status was also identified between two groups of tumor. The most frequent mutations in CRCs with mucinous component are KRAS (28/49, 57.1%) and BRAF (19/49, 38.7%), PIK3CA (16/49, 32.6%), followed by APC (12/49, 24.5%) and TP53 (11/49, 22.5%). The combined mutation frequency of the two key factors in the EGFR signaling pathway, KRAS and BRAF , in the CRCs with and without mucin component is 95.9% and 52.1%, respectively. Conclusions: The dysregulation of EGFR pathway plays a critical role in the development of CRCs with mucinous component, irrespective of the percentage. The mucinous differentiation in CRCs may predict the poor response to anti-EGFR therapy." @default.
- W4249091036 created "2022-05-12" @default.
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- W4249091036 date "2020-02-12" @default.
- W4249091036 modified "2023-09-26" @default.
- W4249091036 title "Colorectal carcinomas with mucinous differentiation are associated with high frequent mutation of KRAS or BRAF mutations, irrespective of quantity of mucinous component. " @default.
- W4249091036 doi "https://doi.org/10.21203/rs.2.23325/v1" @default.
- W4249091036 hasPublicationYear "2020" @default.
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