Department of Immunobiology, Yale School of Medicine, New Haven, CT, U.S.A.
Department of Genetics, Yale School of Medicine, New Haven, CT, U.S.A.
Anticancer Res. 2020 Nov;40(11):6375-6379. doi: 10.21873/anticanres.14658.
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.
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.
whole exome sequencing revealed moderate mutational burden and putative loss of function mutations in CDK11B but no overlap with known MAC mutations.
We characterized the genomic profile of SMA for the first time, identifying both mutational burden and unique somatic variants associated with tumorigenesis.
背景/目的：硬化性微囊性腺癌（SMA）是一种罕见的口腔肿瘤，组织学上类似于皮肤的微囊性附属器癌（MAC）。文献中仅报道了 9 例 SMA 病例，常发生在免疫抑制的情况下；在最近的世界卫生组织肿瘤分类中尚未认识到 SMA。我们试图确定一例 SMA 的潜在肿瘤发生分子机制，相对于 MAC 已知的机制。
一名 41 岁女性，患有银屑病关节炎，正在接受免疫抑制治疗，出现舌部肿块。活检显示 SMA 的诊断。部分舌切除术和颈部清扫术显示无残留肿瘤或淋巴结疾病。
全外显子组测序显示 CDK11B 中度突变负荷和潜在的功能丧失突变，但与已知的 MAC 突变无重叠。
我们首次对 SMA 的基因组图谱进行了特征描述，确定了与肿瘤发生相关的突变负荷和独特的体细胞变异。
