دورية أكاديمية
A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions
| العنوان: | A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions |
|---|---|
| المؤلفون: | Yirong Sim, Gwendolene Xin Pei Ng, Cedric Chuan Young Ng, Vikneswari Rajasegaran, Suet Far Wong, Wei Liu, Peiyong Guan, Sanjanaa Nagarajan, Wai Yee Ng, Aye Aye Thike, Jeffrey Chun Tatt Lim, Nur Diyana Binte Md Nasir, Veronique Kiak Mien Tan, Preetha Madhukumar, Wei Sean Yong, Chow Yin Wong, Benita Kiat Tee Tan, Kong Wee Ong, Bin Tean Teh, Puay Hoon Tan |
| المصدر: | BMC Medical Genomics, Vol 12, Iss 1, Pp 1-14 (2019) |
| بيانات النشر: | BMC, 2019. |
| سنة النشر: | 2019 |
| المجموعة: | LCC:Internal medicine LCC:Genetics |
| مصطلحات موضوعية: | Breast, Fibroepithelial lesion, Fibroadenoma, Phyllodes, Genomic test, Core biopsy, Internal medicine, RC31-1245, Genetics, QH426-470 |
| الوصف: | Abstract Background Known collectively as breast fibroepithelial lesions (FELs), the common fibroadenomas (FAs) and the rarer phyllodes tumors (PTs) are a heterogenous group of biphasic neoplasms. Owing to limited tissue availability, inter-observer variability, overlapping histological features and heterogeneity of these lesions, diagnosing them accurately on core biopsies is challenging. As the choice management option depends on the histological diagnosis; a novel 16-gene panel assay was developed to improve the accuracy of preoperative diagnosis on core biopsy specimens. Methods Using this 16-gene panel, targeted amplicon-based sequencing was performed on 275 formalin-fixed, paraffin-embedded (FFPE) breast FEL specimens, archived at the Singapore General Hospital, from 2008 to 2012. Results In total, 167 FAs, 24 benign, 14 borderline and 6 malignant PTs, were profiled. Compared to FAs, PTs had significantly higher mutation rates in the TERT promoter (p |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1755-8794 |
| العلاقة: | http://link.springer.com/article/10.1186/s12920-019-0588-2Test; https://doaj.org/toc/1755-8794Test |
| DOI: | 10.1186/s12920-019-0588-2 |
| الوصول الحر: | https://doaj.org/article/439bddb112b0407f82296f233009f413Test |
| رقم الانضمام: | edsdoj.439bddb112b0407f82296f233009f413 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17558794 |
|---|---|
| DOI: | 10.1186/s12920-019-0588-2 |