Department of Pathology and Laboratory Medicine, Dartmouth Hitchcock Medical Center, Lebanon, NH, USA.
Geisel School of Medicine at Dartmouth, Hanover, NH, USA.
Int J Surg Pathol. 2023 Dec;31(8):1626-1631. doi: 10.1177/10668969231157306. Epub 2023 Feb 23.
The molecular pathogenesis of breast fibroepithelial tumors continues to be elucidated. Recently, highly recurrent mutations arising in exon 2 at codon 44 were discovered in fibroadenomas and phyllodes tumors. In addition, a high prevalence of promoter mutations in two hotspots (124 and 126 bp upstream from the translation start site) was discovered in up to 65% of phyllodes tumors. Breast periductal stromal tumors are a potentially distinct category of fibroepithelial lesions that are exceptionally rare with controversial classification and pathogenesis. Herein, we report the first comprehensive molecular genetic workup of a breast periductal stromal tumor that harbored a promoter -124C > T mutation, supporting a relation to phyllodes tumors.
乳腺纤维上皮性肿瘤的分子发病机制仍在阐明之中。最近，在纤维腺瘤和叶状肿瘤中发现了高度频发的位于第 44 密码子的外显子 2 中的 突变。此外，多达 65%的叶状肿瘤中发现了 启动子热点（翻译起始位点上游 124 和 126bp 处）的高发突变。乳腺导管周围间质肿瘤是一类潜在的、独特的纤维上皮性病变，其发病率极低，分类和发病机制存在争议。在此，我们报道首例乳腺导管周围间质肿瘤的全面分子遗传学研究，该肿瘤存在 启动子-124C>T 突变，提示与叶状肿瘤相关。
