ArticleMolecular cancer research : MCR2015
Next-Gen Sequencing Exposes Frequent MED12 Mutations and Actionable Therapeutic Targets in Phyllodes Tumors.
Article in Molecular cancer research : MCR, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 66 papers.
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Who cites it
66 citing papers in PubMed, 134 citations in OpenAlex.
- Landscape of genetic alterations affecting cancer genes in primary and advanced malignant phyllodes tumours.Histopathology · 2026Article
- Review
- Management of Breast Phyllodes Tumors: A Grade-Stratified Surgical and Reconstructive Strategy.Journal of clinical medicine · 2026Article
- Molecular pathology of phyllodes tumours of the breast-much more than MED12.Histopathology · 2026Review
- Giant Malignant Phyllodes Tumor with Secondary Thyroid Involvement.Diseases (Basel, Switzerland) · 2026Article
- MED12 dysregulation: insights into cancer and therapeutic resistance.Naunyn-Schmiedeberg's archives of pharmacology · 2025Review
- Recent Advances in Malignant Phyllodes Tumors of the Breast.Journal of breast cancer · 2025Review
- The pathologic and genomic evolution of primary malignant phyllodes tumors of the breast: retrospective cohort study and case-control genomic analysis.The oncologist · 2025Article
- Borderline Phyllodes Breast Tumors: A Comprehensive Review of Recurrence, Histopathological Characteristics, and Treatment Modalities.Current oncology (Toronto, Ont.) · 2025Review
- A Comparative Study on Copy Number Variation in Subtypes of Breast Phyllodes Tumors.Breast cancer : basic and clinical research · 2025Article
- Case Report: Recurrent phyllodes tumor of the breast with progressive malignant transformation.Frontiers in oncology · 2025Article
- Genomic landscape of malignant phyllodes tumors reveals multiple targetable opportunities.The oncologist · 2024Article
- Genomic Landscape of Malignant Phyllodes Tumors Identifies Subsets for Targeted Therapy.JCO precision oncology · 2024Article
- Prognostic factors of breast phyllodes tumors.Histology and histopathology · 2023Review
- An integrative approach for exploring the nature of fibroepithelial neoplasms.British journal of cancer · 2023Article
- Next-generation sequencing in breast pathology: real impact on routine practice over a decade since its introduction.Histopathology · 2023Review
- Development of a Whole-urine, Multiplexed, Next-generation RNA-sequencing Assay for Early Detection of Aggressive Prostate Cancer.European urology oncology · 2022Article
- Serial monitoring of genomic alterations in circulating tumor cells of ER-positive/HER2-negative advanced breast cancer: feasibility of precision oncology biomarker detection.Molecular oncology · 2022Article
- Fibroepithelial tumours of the breast-a review.Virchows Archiv : an international journal of pathology · 2022Review
- Comparative Molecular Analysis of Primary Central Nervous System Lymphomas and Matched Vitreoretinal Lymphomas by Vitreous Liquid Biopsy.International journal of molecular sciences · 2021Article
6 more citing papers are in PubMed but not listed here.
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Authors and funding
17 authors at 4 institutions in 2 countries.
Funding
Abstract
unlabelledPhyllodes tumors are rare fibroepithelial tumors with variable clinical behavior accounting for a small subset of all breast neoplasms, yet little is known about the genetic alterations that drive tumor initiation and/or progression. Here, targeted next-generation sequencing (NGS) was used to identify somatic alterations in formalin-fixed paraffin-embedded (FFPE) patient specimens from malignant, borderline, and benign cases. NGS revealed mutations in mediator complex subunit 12 (MED12) affecting the G44 hotspot residue in the majority (67%) of cases spanning all three histologic grades. In addition, loss-of-function mutations in p53 (TP53) as well as deleterious mutations in the tumor suppressors retinoblastoma (RB1) and neurofibromin 1 (NF1) were identified exclusively in malignant tumors. High-level copy-number alterations (CNA) were nearly exclusively confined to malignant tumors, including potentially clinically actionable gene amplifications in IGF1R and EGFR. Taken together, this study defines the genomic landscape underlying phyllodes tumor development, suggests potential molecular correlates to histologic grade, expands the spectrum of human tumors with frequent recurrent MED12 mutations, and identifies IGF1R and EGFR as potential therapeutic targets in malignant cases. IMPLICATIONS: Integrated genomic sequencing and mutational profiling provides insight into the molecular origin of phyllodes tumors and indicates potential druggable targets in malignant disease. Visual Overview: http://mcr.aacrjournals.org/content/early/2015/04/02/1541-7786.MCR-14-0578/F1.large.jpg.
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