Human pathology · 2025
Myoepithelial and epithelial-myoepithelial clinically advanced and metastatic carcinomas of salivary gland: A comparative comprehensive genomic profiling study.
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Hardy Céline S C, Lin Kevin M, Pavlick Dean, Huang Richard S P, Ross Jeffrey S, Zaccarini Daniel J
Аннотация
Myoepithelial carcinoma (MECA) and Epithelial-myoepithelial carcinomas (EMC) are rare salivary gland carcinomas (SGCA) that may arise de novo or in the background of a prior pleomorphic adenoma (carcinoma ex pleomorphic adenoma CAEXPLA). Despite being clinically distinct entities, MECA and EMC share morphologic similarities which can make them difficult to distinguish on histologic examination. Further, there is a currently an evolving understanding of the characteristic genomic and immunohistochemical biomarkers for these tumors. In this study, we characterize the genomic profiles of a relatively large cohort of clinically advanced MECA (n = 52) and EMC (n = 26) cohorts. Both tumor types demonstrated single copy number changes, short variant mutations, and gene rearrangements. The most common alterations in MECA were in CDKN2A and CDKN2B. In EMC, HRAS mutations were the most common alteration, while both PIK3CA and MDM2 mutations were also common. Although not significantly different, CDKN2A and CDKN2B alterations were more frequent in MECA, while PIK3CA alterations were more frequent in EMC. Overall, EMC and MECA had both overlapping and unique molecular alterations that have potential for targeted therapies.
Предметные рубрики MeSH
HumansSalivary Gland NeoplasmsFemaleMyoepitheliomaMaleMiddle AgedBiomarkers, TumorMutationAgedAdultCarcinomaCyclin-Dependent Kinase Inhibitor p16Aged, 80 and overDNA Copy Number VariationsGene RearrangementGene Expression ProfilingClass I Phosphatidylinositol 3-KinasesCyclin-Dependent Kinase Inhibitor p15Proto-Oncogene Proteins c-mdm2