Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA.
Pathology, Stanford University School of Medicine, Stanford, California, USA.
J Clin Pathol. 2022 Feb;75(2):133-136. doi: 10.1136/jclinpath-2020-207062. Epub 2020 Dec 29.
Here we explore the presence of mediator complex subunit 12 () exon 2 and telomerase reverse transcriptase () promoter hotspot mutations in complex fibroadenomas (CFAs) of the breast.
The stromal components from 18 CFAs were subjected to Sanger sequencing of exon 2 and the promoter hotspot loci. The epithelial and stromal components of two mutated CFAs were subjected to laser capture microdissection, and Sanger sequencing of exon 2, promoter and exons 9 and 20, separately.
exon 2 mutations were identified in the stroma of 17% of CFAs. The analyses of epithelial and stromal components, microdissected separately, revealed that mutations were restricted to the stroma. No promoter or mutations in exons 9 and 20 were detected in analysed CFAs.
Like conventional fibroadenomas, exon 2 mutations appear to be restricted to the stromal component of CFAs, supporting the notion that CFAs are stromal neoplasms.
本研究旨在探讨乳腺复杂纤维腺瘤（CFAs）中中介复合物亚基 12（MED12）外显子 2 和端粒酶逆转录酶（TERT）启动子热点突变的存在情况。
对 18 例 CFAs 的基质成分进行 MED12 外显子 2 和 TERT 启动子热点区域的 Sanger 测序。对 2 例 MED12 突变 CFAs 的上皮和基质成分进行激光捕获微切割，分别对 MED12 外显子 2、TERT 启动子和 9 号和 20 号外显子进行 Sanger 测序。
17%的 CFAs 中存在 MED12 外显子 2 突变。对上皮和基质成分分别进行的分析显示，突变仅限于基质。在所分析的 CFAs 中未检测到 TERT 启动子或 9 号和 20 号外显子的突变。
与传统纤维腺瘤一样，MED12 外显子 2 突变似乎仅限于 CFAs 的基质成分，支持 CFAs 是基质肿瘤的观点。
