ArticleMolecular oncology2021
The genetic landscape of metaplastic breast cancers and uterine carcinosarcomas.
Article in Molecular oncology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 38 citations in OpenAlex.
- Nivolumab for mismatch-repair-deficient or hypermutated gynecologic cancers: a phase 2 trial with biomarker analyses.Nature medicine · 2024Trial
- Germline BRCA2 Pathogenic Variant in Metaplastic Breast Carcinoma with Heterologous Mesenchymal Differentiation: A Case Report and Literature Review.Reports (MDPI) · 2026Article
- CNR1 and CNR2 Cannabinoid Receptor Mutations in Cancer Cells.Current issues in molecular biology · 2026Article
- Cross-cancer homologous recombination deficiency prediction from whole slide images using transfer learning.Scientific reports · 2026Article
- A Subset of Serous Tubal Intraepithelial Carcinoma (STIC)-Like Lesions and Concurrent High-Grade Endometrial Carcinoma Are Genomically Related Entities.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2025Article
- Pathogenic Germline Variants in Patients With Metaplastic Breast Cancer.JAMA network open · 2025Article
- Case Report: Lasting complete response to pembrolizumab in mismatch repair-deficient cardiac sarcoma: a genomic characterization.Frontiers in oncology · 2025Article
- HER2-Positive Serous Endometrial Cancer Treatment: Current Clinical Practice and Future Directions.Medicina (Kaunas, Lithuania) · 2024Review
- Prediction of homologous recombination deficiency from routine histology with attention-based multiple instance learning in nine different tumor types.BMC biology · 2024Article
- A comprehensive overview of metaplastic breast cancer: Features and treatments.Cancer science · 2024Review
- Ovarian carcinosarcomas: p53 status defines two distinct patterns of oncogenesis and outcomes.Frontiers in oncology · 2024Article
- Epithelial to mesenchymal transition (EMT) in metaplastic breast cancer and phyllodes breast tumors.Medical oncology (Northwood, London, England) · 2023Review
- Epidemiology, site-specific characteristics and survival of carcinosarcoma: a retrospective study based on SEER database.BMJ open · 2023Article
- Metaplastic Breast Cancer: Current Understanding and Future Directions.Clinical breast cancer · 2023Review
- Germline pathogenic variants in metaplastic breast cancer patients and the emerging role of the BRCA1 gene.European journal of human genetics : EJHG · 2023Article
- The mixed subtype has a worse prognosis than other histological subtypes: a retrospective analysis of 217 patients with metaplastic breast cancer.Breast cancer research and treatment · 2023Article
- Germline drivers of gynecologic carcinosarcomas.Gynecologic oncology · 2023Article
- The Role of FBXW7 in Gynecologic Malignancies.Cells · 2023Review
- Direct prediction of Homologous Recombination Deficiency from routine histology in ten different tumor types with attention-based Multiple Instance Learning: a development and validation study.medRxiv : the preprint server for health sciences · 2023Article
- Predicting breast cancer-specific survival in metaplastic breast cancer patients using machine learning algorithms.Journal of pathology informatics · 2023Article
Corrections and comments
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Authors and funding
19 authors at 2 institutions in 5 countries.
Funding
Abstract
Metaplastic breast carcinoma (MBC) and uterine carcinosarcoma (UCS) are rare aggressive cancers, characterized by an admixture of adenocarcinoma and areas displaying mesenchymal/sarcomatoid differentiation. We sought to define whether MBCs and UCSs harbor similar patterns of genetic alterations, and whether the different histologic components of MBCs and UCSs are clonally related. Whole-exome sequencing (WES) data from MBCs (n = 35) and UCSs (n = 57, The Cancer Genome Atlas) were reanalyzed to define somatic genetic alterations, altered signaling pathways, mutational signatures, and genomic features of homologous recombination DNA repair deficiency (HRD). In addition, the carcinomatous and sarcomatous components of an additional cohort of MBCs (n = 11) and UCSs (n = 6) were microdissected separately and subjected to WES, and their clonal relatedness was assessed. MBCs and UCSs harbored recurrent genetic alterations affecting TP53, PIK3CA, and PTEN, similar patterns of gene copy number alterations, and an enrichment in alterations affecting the epithelial-to-mesenchymal transition (EMT)-related Wnt and Notch signaling pathways. Differences were observed, however, including a significantly higher prevalence of FAT3 and FAT1 somatic mutations in MBCs compared to UCSs, and conversely, UCSs significantly more frequently harbored somatic mutations affecting FBXW7 and PPP2R1A as well as HER2 amplification than MBCs. Genomic features of HRD and biallelic alterations affecting bona fide HRD-related genes were found to be more prevalent in MBCs than in UCSs. The distinct histologic components of MBCs and UCSs were clonally related in all cases, with the sarcoma component likely stemming from a minor subclone of the carcinoma component in the samples with interpretable chronology of clonal evolution. Despite the similar histologic features and pathways affected by genetic alterations, UCSs differ from MBCs on the basis of FBXW7 and PPP2R1A mutations, HER2 amplification, and lack of HRD, supporting the notion that these entities are more than mere phenocopies of the same tumor type in different anatomical sites.
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