Genomic profile of breast sarcomas: a comparison with malignant phyllodes tumours View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-04

AUTHORS

Sue Zann Lim, Cedric Chuan Young Ng, Vikneswari Rajasegaran, Peiyong Guan, Sathiyamoorthy Selvarajan, Aye Aye Thike, Nur Diyana Binte Md Nasir, Valerie Cui Yun Koh, Benita Kiat Tee Tan, Kong Wee Ong, Bin Tean Teh, Puay Hoon Tan

ABSTRACT

PURPOSE: We aimed to investigate the genomic profile of breast sarcomas (BS) and compare with that of malignant phyllodes tumours (MPT). METHODS: DNA was extracted from formalin-fixed, paraffin-embedded (FFPE) specimens from 17 cases of BS diagnosed at Singapore General Hospital from January 1991 to December 2014. Targeted deep sequencing and copy number variation (CNV) analysis on 16 genes, which included recurrently mutated genes in phyllodes tumours and genes associated with breast cancer, were performed on these samples. Genetic alterations (GA) observed were summarised and analysed. RESULTS: Nine cases met the quality control requirements for both targeted deep sequencing and CNV analysis. Three (33.33%) were angiosarcomas and 6 (66.67%) were non-angiosarcomas. In the non-angiosarcoma group, 83.33% (n = 5) of the patients had GA in the TERT gene. The other commonly mutated genes in this group of tumours were MED12 (n = 4, 66.67%), BCOR (n = 4, 66.67%), KMT2D (n = 3, 50%), FLNA (n = 3, 50%) and NF1 (n = 3, 50%). In contrast, none of the angiosarcomas had mutations or copy number alterations in TERT, MED12, BCOR, FLNA or NF1. Eighty percent of patients with GA in TERT (n = 5) had concurrent mutations in MED12. Sixty percent (n = 3) of these cases also demonstrated GA in NF1, PIK3CA or EGFR which are known cancer driver genes. CONCLUSIONS: The non-angiosarcoma group of BS was found to share similar GA as those described for MPT, which may suggest a common origin and support their consideration as a similar group of tumours with regard to management and prognostication. More... »

PAGES

365-373

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10549-018-5067-5

DOI

http://dx.doi.org/10.1007/s10549-018-5067-5

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1110344498

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30511242


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