Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.
Cedric Chuan Young NgNur Diyana Md NasirBenjamin Nathanael LokeTimothy Kwang Yong TayAye Aye ThikeVikneswari RajasegaranWei LiuJing Yi LeePeiyong GuanAbner Herbert LimKenneth Tou-En ChangMihir Ananta GudiPreetha MadhukumarBenita Kiat Tee TanVeronique Kiak Mien TanChow Yin WongWei Sean YongGay Hui HoKong Wee Ongnull nullGeorge Wai Cheong YipBoon Huat BayPatrick TanBin Tean TehPuay Hoon TanPublished in: Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc (2021)
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.