| Literature DB >> 33727697 |
Cedric Chuan Young Ng1, Nur Diyana Md Nasir2, Benjamin Nathanael Loke2,3,4, Timothy Kwang Yong Tay2, Aye Aye Thike2,3, Vikneswari Rajasegaran1, Wei Liu1, Jing Yi Lee1, Peiyong Guan1,5, Abner Herbert Lim1, Kenneth Tou En Chang6, Mihir Ananta Gudi6, Preetha Madhukumar7,8, Benita Kiat Tee Tan7,8,9, Veronique Kiak Mien Tan7,8, Chow Yin Wong7,8, Wei Sean Yong7,8, Gay Hui Ho7, Kong Wee Ong7, George Wai Cheong Yip4, Boon Huat Bay4, Patrick Tan3, Bin Tean Teh10,11, Puay Hoon Tan12,13,14,15.
Abstract
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.Entities:
Mesh：
Year: 2021 PMID： 33727697 DOI： 10.1038/s41379-021-00787-w
Source DB: PubMed Journal: Mod Pathol ISSN： 0893-3952 Impact factor: 7.842