ArticleBMC medical genomics2019
A novel genomic panel as an adjunctive diagnostic tool for the characterization and profiling of breast Fibroepithelial lesions.
Article in BMC medical genomics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Malignant phyllodes tumor of the breast: a systematic review.Pathologica · 2022Pooled it
- Molecular pathology of phyllodes tumours of the breast-much more than MED12.Histopathology · 2026Review
- Integrative multi-omics reveals common and distinct pathogenic mechanisms and preoperative diagnostic signatures in breast fibroepithelial lesions.Breast cancer research : BCR · 2025Article
- Integrating single-cell and spatial transcriptomes reveals COL4A1/2 facilitates the spatial organisation of stromal cells differentiation in breast phyllodes tumours.Clinical and translational medicine · 2024Article
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- Artificial intelligence modelling in differentiating core biopsies of fibroadenoma from phyllodes tumor.Laboratory investigation; a journal of technical methods and pathology · 2022Article
- A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.Frontiers in molecular biosciences · 2022Article
- Fibroepithelial tumours of the breast-a review.Virchows Archiv : an international journal of pathology · 2022Review
- Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Article
- SETD2 alterations and histone H3K36 trimethylation in phyllodes tumor of breast.Breast cancer research and treatment · 2021Article
- A Case of Phyllodes Tumor of the Breast with Mixed Liposarcoma: Case Report and Literature Review.OncoTargets and therapy · 2021Article
- Fibroepithelial lesions revisited: implications for diagnosis and management.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2021Review
Corrections and comments
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Authors and funding
20 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundKnown 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.
methodsUsing 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.
resultsIn 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 < 0.001), RARA (p < 0.001), FLNA, RB1 and TP53 (p = 0.002, 0.020 and 0.018, respectively). In addition to a higher mutational count (p < 0.001), TERT promoter (p < 0.001), frameshift, nonsense and splice site (p = 0.001, < 0.001 and 0.043, respectively) mutations were also frequently observed in PTs. A multivariate logistic regression model was built using these as variables and a predictive scoring system was developed. It classifies a FEL at low or high risk (score < 1 and ≥ 1, respectively) of being a PT. This scoring system has good discrimination (ROC area = 0.773, 95% CI: 0.70 to 0.85), calibration (p = 0.945) and is significant in predicting PTs (p < 0.001).
conclusionThis novel study demonstrates the ability to extract DNA of sufficient quality and quantity for targeted sequencing from FFPE breast core biopsy specimens, along with their successful characterization and profiling using our customized 16-gene panel. Prospective work includes validating the utility of this promising 16-gene panel assay as an adjunctive diagnostic tool in clinical practice.
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