De la Sancha Carlo, Ruiz-Cordero Roberto, Popnikolov Nikolay
Department of Pathology and Laboratory Medicine, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Department of Pathology and Laboratory Medicine, University of California, San Francisco, California, USA.
Case Rep Oncol. 2021 Mar 22;14(1):500-505. doi: 10.1159/000514978. eCollection 2021 Jan-Apr.
Invasive carcinoma with a glycogen-rich clear cell pattern (IC-GRCCP) is a rare and understudied subtype of invasive breast carcinoma of no special type (IBC-NST). Here we report the molecular characteristics of a mammary IC-GRCCP diagnosed in a 69-year-old woman. Next-generation sequencing of the tumor revealed an inv(1)(p36.12,q32.1) leading to loss-of-function of gene, a truncating mutation (p.E376), amplification, a variant of uncertain significance of gene (p.D1848N) and deep deletions of , and . The analysis of the involved pathways shows close resemblance to the ovarian clear cell carcinoma and indicates similarities in the molecular mechanisms of development of glycogen-rich clear cell carcinomas in different organs. Our findings and the literature review suggest new potential strategies for treatment of mammary IC-GRCCP, including epigenetic therapies, checkpoint inhibitors, radiation, or other double-strand DNA breaks-inducing agents. Nevertheless, larger studies are needed to substantiate those ideas.
具有富含糖原透明细胞模式的浸润性癌（IC-GRCCP）是一种罕见且研究不足的非特殊类型浸润性乳腺癌（IBC-NST）亚型。在此，我们报告一例在一名69岁女性中诊断出的乳腺IC-GRCCP的分子特征。对该肿瘤进行的二代测序显示存在inv(1)(p36.12,q32.1)，导致 基因功能丧失、一个截短突变（p.E376）、 扩增、 基因一个意义未明的变异（p.D1848N）以及 和 的深度缺失。对相关通路的分析显示与卵巢透明细胞癌极为相似，并表明不同器官中富含糖原透明细胞癌的分子发生机制具有相似性。我们的研究结果及文献综述提示了治疗乳腺IC-GRCCP的新潜在策略，包括表观遗传疗法、检查点抑制剂、放疗或其他诱导双链DNA断裂的药物。然而，需要更大规模的研究来证实这些想法。
