TY - JOUR T1 - Sequencing of Sclerosing Microcystic Adenocarcinoma Identifies Mutational Burden and Somatic Variants Associated With Tumorigenesis JF - Anticancer Research JO - Anticancer Res SP - 6375 LP - 6379 DO - 10.21873/anticanres.14658 VL - 40 IS - 11 AU - ROY JIANG AU - JONATHAN MARQUEZ AU - JACOB I. TOWER AU - DANIEL JACOBS AU - WENQIAN CHEN AU - SARAL MEHRA AU - MANJU LATA PRASAD AU - BENJAMIN L. JUDSON Y1 - 2020/11/01 UR - http://ar.iiarjournals.org/content/40/11/6375.abstract N2 - Background/Aim: Sclerosing microcystic adenocarcinoma (SMA) is a rare oral cavity neoplasia, histologically resembling microcystic adnexal carcinoma (MAC) of the skin. Only nine SMA cases have been reported in the literature, frequently in the context of immunosuppression; SMA has not been recognized in the most recent WHO tumor classification. We sought to identify potential molecular mechanisms of tumorigenesis in a case of SMA relative to those known for MAC. Case Report: A 41-year-old female with psoriatic arthritis undergoing immunosuppression therapy presented with a tongue mass. Biopsy revealed a diagnosis of SMA. Partial glossectomy and neck dissection showed no residual tumor or nodal disease. Results: whole exome sequencing revealed moderate mutational burden and putative loss of function mutations in CDK11B but no overlap with known MAC mutations. Conclusion: We characterized the genomic profile of SMA for the first time, identifying both mutational burden and unique somatic variants associated with tumorigenesis. ER -