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03.12.2018 | Preclinical study

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

verfasst von: 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

Erschienen in: Breast Cancer Research and Treatment | Ausgabe 2/2019

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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.

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Titel: Genomic profile of breast sarcomas: a comparison with malignant phyllodes tumours
verfasst von: 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
Publikationsdatum: 03.12.2018
Verlag: Springer US
Erschienen in: Breast Cancer Research and Treatment / Ausgabe 2/2019
Print ISSN: 0167-6806
Elektronische ISSN: 1573-7217
DOI: https://doi.org/10.1007/s10549-018-5067-5

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Springer Medizin

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

Abstract

Purpose

Methods

Results

Conclusions

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Springer Medizin

Abstract

Purpose

Methods

Results

Conclusions

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