Laboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.
Department of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.
Mod Pathol. 2021 Jul;34(7):1320-1332. doi: 10.1038/s41379-021-00787-w. Epub 2021 Mar 16.
Breast fibroepithelial lesions are biphasic tumors which comprise the common benign fibroadenomas (FAs) and the rarer phyllodes tumors (PTs). This study analyzed 262 (42%) conventional FAs, 45 (7%) cellular FAs, and 321 (51%) benign PTs contributed by the International Fibroepithelial Consortium, using a previously curated 16 gene panel. Benign PTs were found to possess a higher number of mutations, and higher rates of cancer driver gene alterations than both groups of FAs, in particular MED12, TERT promoter, RARA, FLNA, SETD2, RB1, and EGFR. Cases with MED12 mutations were also more likely to have TERT promoter, RARA, SETD2, and EGFR. There were no significant differences detected between conventional FAs and cellular FAs, except for PIK3CA and MAP3K1. TERT promoter alterations were most optimal in discriminating between FAs and benign PTs. Our study affirms the role of sequencing and key mutations that may assist in refining diagnoses of these lesions.
乳腺纤维上皮病变是一种双相肿瘤，包括常见的良性纤维腺瘤（FAs）和罕见的叶状肿瘤（PTs）。本研究分析了国际纤维上皮联合组织提供的 262 例（42%）常规纤维腺瘤、45 例（7%）细胞纤维腺瘤和 321 例（51%）良性叶状肿瘤，使用了以前经过精心整理的 16 个基因面板。良性叶状肿瘤的突变数量和癌症驱动基因改变的发生率均高于 FAs 两组，特别是 MED12、TERT 启动子、RARA、FLNA、SETD2、RB1 和 EGFR。具有 MED12 突变的病例也更有可能发生 TERT 启动子、RARA、SETD2 和 EGFR。常规纤维腺瘤和细胞纤维腺瘤之间除了 PIK3CA 和 MAP3K1 外，没有发现显著差异。TERT 启动子改变在区分 FAs 和良性 PTs 方面最为有效。我们的研究证实了测序和关键突变的作用，这些可能有助于完善这些病变的诊断。
