TY - JOUR
T1 - Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing
AU - Ng, Cedric Chuan Young
AU - Md Nasir, Nur Diyana
AU - Loke, Benjamin Nathanael
AU - Tay, Timothy Kwang Yong
AU - Thike, Aye Aye
AU - Rajasegaran, Vikneswari
AU - Liu, Wei
AU - Lee, Jing Yi
AU - Guan, Peiyong
AU - Lim, Abner Herbert
AU - Chang, Kenneth Tou En
AU - Gudi, Mihir Ananta
AU - Madhukumar, Preetha
AU - Tan, Benita Kiat Tee
AU - Tan, Veronique Kiak Mien
AU - Wong, Chow Yin
AU - Yong, Wei Sean
AU - Ho, Gay Hui
AU - Ong, Kong Wee
AU - International Fibroepithelial Consortium,
AU - Lee, Cheok Soon
AU - Yip, George Wai Cheong
AU - Bay, Boon Huat
AU - Tan, Patrick
AU - Teh, Bin Tean
AU - Tan, Puay Hoon
PY - 2021/7
Y1 - 2021/7
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=85102856946&partnerID=8YFLogxK
UR - https://go.openathens.net/redirector/westernsydney.edu.au?url=https://doi.org/10.1038/s41379-021-00787-w
U2 - 10.1038/s41379-021-00787-w
DO - 10.1038/s41379-021-00787-w
M3 - Article
C2 - 33727697
AN - SCOPUS:85102856946
SN - 0893-3952
VL - 34
SP - 1320
EP - 1332
JO - Modern Pathology
JF - Modern Pathology
IS - 7
ER -
