Pareja, Fresia and Geyer, Felipe C. and Kumar, Rahul and Selenica, Pier and Piscuoglio, Salvatore and Ng, Charlotte K. Y. and Burke, Kathleen A. and Edelweiss, Marcia and Murray, Melissa P. and Brogi, Edi and Weigelt, Britta and Reis-Filho, Jorge S.. (2017) Phyllodes tumors with and without fibroadenoma-like areas display distinct genomic features and may evolve through distinct pathways. NPJ breast cancer, 3 (40).
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Abstract
Breast fibroepithelial lesions (fibroadenomas and phyllodes tumors) are underpinned by recurrent; MED12; exon 2 mutations, which are more common in fibroadenomas and benign phyllodes tumors.; TERT; promoter hotspot mutations have been documented in phyllodes tumors, and found to be more frequent in borderline and malignant lesions. Several lines of evidence suggest that a subset of phyllodes tumors might arise from fibroadenomas. Here we sought to investigate the genetic differences between phyllodes tumors with fibroadenoma-like areas vs. those without. We retrieved data for 16 borderline/ malignant phyllodes tumors, including seven phyllodes tumors with fibroadenoma-like areas and nine phyllodes tumors without fibroadenoma-like areas, which had been previously subjected to targeted capture massively parallel sequencing. Whilst; MED12; exon 2 mutations were significantly more frequent in tumors with fibroadenoma-like areas (71 vs. 11%), an enrichment in genetic alterations targeting; bona fide; cancer genes was found in those without fibroadenoma-like areas, in particular in; EGFR; mutations and amplifications (78 vs. 14%). No significant difference in the frequency of; TERT; genetic alterations was observed (71% in cases with fibroadenoma-like areas vs 56% in those without fibroadenoma-like areas). Our data suggest that the development of phyllodes tumors might follow two different evolutionary pathways: a; MED12; -mutant pathway that involves the progression from a fibroadenoma to a malignant phyllodes tumor; and a; MED12; -wild-type pathway, where malignant phyllodes tumors arise de novo through the acquisition of genetic alterations targeting cancer genes. Additional studies are warranted to confirm our observations and define whether the outcome differs between both pathways.
Faculties and Departments: | 03 Faculty of Medicine 03 Faculty of Medicine > Bereich Querschnittsfächer (Klinik) > Pathologie USB 03 Faculty of Medicine > Departement Klinische Forschung > Bereich Querschnittsfächer (Klinik) > Pathologie USB |
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UniBasel Contributors: | Piscuoglio, Salvatore |
Item Type: | Article, refereed |
Article Subtype: | Research Article |
Publisher: | Nature Research |
ISSN: | 2374-4677 |
Note: | Publication type according to Uni Basel Research Database: Journal article |
Language: | English |
Language: | English |
Identification Number: |
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edoc DOI: | |
Last Modified: | 29 Jan 2019 08:42 |
Deposited On: | 29 Jan 2019 08:42 |
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