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A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.

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?

SUBMITTER: Sim Y

PROVIDER: S-EPMC6813086 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.

Sim Yirong Y Ng Gwendolene Xin Pei GXP Ng Cedric Chuan Young CCY Rajasegaran Vikneswari V Wong Suet Far SF Liu Wei W Guan Peiyong P Nagarajan Sanjanaa S Ng Wai Yee WY Thike Aye Aye AA Lim Jeffrey Chun Tatt JCT Nasir Nur Diyana Binte Md NDBM Tan Veronique Kiak Mien VKM Madhukumar Preetha P Yong Wei Sean WS Wong Chow Yin CY Tan Benita Kiat Tee BKT Ong Kong Wee KW Teh Bin Tean BT Tan Puay Hoon PH

BMC medical genomics 20191023 1

<h4>Background</h4>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 devel ...[more]

PMID: 31647027

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Project description:To compare the diagnostic performance of breast tomosynthesis versus supplemental mammography views in classification of masses, distortions, and asymmetries.Eight radiologists who specialized in breast imaging retrospectively reviewed 217 consecutively accrued lesions by using protocols that were HIPAA compliant and institutional review board approved in 182 patients aged 31-60 years (mean, 50 years) who underwent diagnostic mammography and tomosynthesis. The lesions in the cohort included 33% (72 of 217) cancers and 67% (145 of 217) benign lesions. Eighty-four percent (182 of 217) of the lesions were masses, 11% (25 of 217) were asymmetries, and 5% (10 of 217) were distortions that were initially detected at clinical examination in 8% (17 of 217), at mammography in 80% (173 of 217), at ultrasonography (US) in 11% (25 of 217), or at magnetic resonance imaging in 1% (2 of 217). Histopathologic examination established truth in 191 lesions, US revealed a cyst in 12 lesions, and 14 lesions had a normal follow-up. Each lesion was interpreted once with tomosynthesis and once with supplemental mammographic views; both modes included the mediolateral oblique and craniocaudal views in a fully crossed and balanced design by using a five-category Breast Imaging Reporting and Data System (BI-RADS) assessment and a probability-of-malignancy score. Differences between modes were analyzed with a generalized linear mixed model for BI-RADS-based sensitivity and specificity and with modified Obuchowski-Rockette approach for probability-of-malignancy-based area under the receiver operating characteristic (ROC) curve.Average probability-of-malignancy-based area under the ROC curve was 0.87 for tomosynthesis versus 0.83 for supplemental views (P < .001). With tomosynthesis, the false-positive rate decreased from 85% (989 of 1160) to 74% (864 of 1160) (P < .01) for cases that were rated BI-RADS category 3 or higher and from 57% (663 of 1160) to 48% (559 of 1160) for cases rated BI-RADS category 4 or 5 (P < .01), without a meaningful change in sensitivity. With tomosynthesis, more cancers were classified as BI-RADS category 5 (39% [226 of 576] vs 33% [188 of 576]; P = .017) without a decrease in specificity.Tomosynthesis significantly improved diagnostic accuracy for noncalcified lesions compared with supplemental mammographic views.

Dataset Information

A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.

Publications

A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.

Similar Datasets

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