, and in fibroepithelial tumours of the breast.

Huan Ying Chang, Valerie Cui Yun Koh, Nur Diyana Md Nasir, Cedric Chuan Young Ng, Peiyong Guan, Aye Aye Thike, Bin Tean Teh, Puay Hoon Tan

Journal: Journal of clinical pathology 2019;73(1):51-56

PMID: 31662438

Abstract

Fibroepithelial tumours are biphasic neoplasms of the breast comprising the common benign fibroadenomas and the less common phyllodes tumours (PTs), which have recurrent potential. PTs are classified into benign, borderline or malignant, based on five histopathological criteria, with malignant PTs having the highest metastatic capability. Accurate diagnosis can be challenging due to the subjective assessment of histopathological parameters. Fibroadenomas bear morphological similarities to benign PTs, while borderline and malignant PTs can sometimes be difficult to distinguish from other spindle cell tumours of the breast. From clonality studies to whole-genome sequencing, much research has been conducted to elucidate the molecular pathogenesis of fibroepithelial tumours, which, in turn, have allowed leveraging the findings for diagnostic applications, including grading of PTs. The most noteworthy discovery was of recurrent mutations in both fibroadenomas and PTs. Subsequent studies also uncovered relatively frequent genetic mutations in promoter and A customised panel of 16 most frequently mutated genes in fibroepithelial tissues has been compiled previously and has contributed to resolving a few diagnostic dilemmas. This review will introduce the 16 genes and focus on the top three that are most frequently mutated in fibroepithelial tumours: , , and .

© Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.

Address: Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore.; Laboratory of Cancer Epigenome, National Cancer Centre Singapore, Singapore, Singapore.; Cancer and Stem Cell Biology Program, Duke-NUS Medical School, Singapore, Singapore.; PhD Programme in Quantitative Biology and Medicine, Duke-NUS Medical School, Singapore, Singapore.; Department of Anatomical Pathology, Singapore General Hospital, Singapore, Singapore [email protected].; Division of Pathology, Singapore General Hospital, Singapore, Singapore.
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