SETD2 alterations and histone H3K36 trimethylation in phyllodes tumor of breast.
Julia Y TsangSui-Ting LaiYun-Bi NiYan ShaoIvan K PoonJohnny S KwanChit ChowKa-Ho SheaGary M K TsePublished in: Breast cancer research and treatment (2021)
Our findings may suggest a potential involvement of epigenetic regulation via SETD2 alterations and downstream H3K36me3 on PT development. SETD2 mutations may occur early in the pathogenic process of PTs and its loss per se may not be sufficient for progression to malignancy. Exclusive alterations of SETD2 in PT can be used as markers for the diagnosis of fibroepithelial lesions. The association of H3K36me3 with SETD2 mutations may also indicate the value of evaluation of H3K36me3 expression in the diagnosis of fibroepithelial lesions.