Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing

Ng, C.C.Y. and Md Nasir, N.D. and Loke, B.N. and Tay, T.K.Y. and Thike, A.A. and Rajasegaran, V. and Liu, W. and Lee, J.Y. and Guan, P. and Lim, A.H. and Chang, K.T.E. and Gudi, M.A. and Madhukumar, P. and Tan, B.K.T. and Tan, V.K.M. and Wong, C.Y. and Yong, W.S. and Ho, G.H. and Ong, K.W. and Rahman, N.A. and Begum, S.M.K.N. and Cheah, Phaik Leng and Chen, C.J. and Fuente, E.D. and Han, A. and Harada, O. and Kanomata, N. and Lee, C.S. and Lee, J.Y.H. and Kamal, M. and Nishimura, R. and Ohi, Y. and Sawyer, E.J. and Teoh, K.H. and Tsang, A.K.H. and Tsang, J.Y.-S. and Tse, G.M.K. and Yamaguchi, R. and Yip, G.W.C. and Bay, B.H. and Tan, P. and Teh, B.T. and Tan, P.H. and Consortium, International Fibroepithelial (2021) Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing. Modern Pathology, 34 (7). pp. 1320-1332. ISSN 0893-3952, DOI

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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. © 2021, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.

Item Type: Article
Funders: 10.1038/s41379-021-00787-w (Grant No. MOH-STAR18-0001), SingHealth Foundation (Grant No. SDC/021/2015)
Uncontrolled Keywords: Adult; Breast neoplasms; Diagnosis, Differential; DNA mutational analysis; Female; Fibroadenoma; High-throughput nucleotide sequencing; Humans; Mutation; Phyllodes tumor
Subjects: R Medicine
R Medicine > RB Pathology
Divisions: Faculty of Medicine > Pathology Department
Depositing User: Ms Zaharah Ramly
Date Deposited: 24 Oct 2023 04:51
Last Modified: 24 Oct 2023 04:51

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