Department of Pathology, New York University Langone Medical Center, New York, NY, US.
Department of Surgery, New York University Langone Health, New York, NY, US.
Breast J. 2021 Sep;27(9):731-734. doi: 10.1111/tbj.14265. Epub 2021 Jun 28.
Primary mucinous cystadenocarcinoma of the breast is a rare neoplasm with few reports in the literature. Here, we report for the first time a comprehensive genetic profile of a primary mucinous cystadenocarcinoma of the breast, using next-generation sequencing 580 cancer-associated gene panel. Mutations in TP53, RB1, and BAP1 were identified. The findings suggest that this tumor is driven mostly by abnormalities in tumor suppressor genes, primarily involved in cell cycle control and chromatin remodeling. Molecular characterization of additional primary mucinous cystadenocarcinomas of the breast is warranted and might provide information related to its biology and behavior.
原发性乳腺黏液囊腺癌是一种罕见的肿瘤，文献报道较少。在这里，我们首次使用下一代测序 580 个癌症相关基因panel 报告了一例原发性乳腺黏液囊腺癌的全面遗传图谱。鉴定出 TP53、RB1 和 BAP1 中的突变。研究结果表明，该肿瘤主要由肿瘤抑制基因异常驱动，主要涉及细胞周期控制和染色质重塑。有必要对更多的原发性乳腺黏液囊腺癌进行分子特征分析，这可能提供与其生物学和行为相关的信息。
