Comprehensive profiling of metaplastic breast carcinomas reveals frequent overexpression of programmed death-ligand 1
| Autor: | Wangjuh Chen, Semir Vranic, Rebecca Feldman, Sandeep K. Reddy, Juan P. Palazzo, Nianqing Xiao, Jeffrey Swensen, Upasana Joneja, Zoran Gatalica, Jeffrey Kimbrough |
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| Jazyk: | angličtina |
| Rok vydání: | 2016 |
| Předmět: |
0301 basic medicine
Adult Pathology medicine.medical_specialty GENETICS DNA Mutational Analysis Triple Negative Breast Neoplasms B7-H1 Antigen Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Breast cancer BREAST CANCER medicine Carcinoma Biomarkers Tumor PTEN Humans HRAS skin and connective tissue diseases Aged biology Gene Expression Profiling High-Throughput Nucleotide Sequencing General Medicine Metaplastic Breast Carcinoma Ductal carcinoma Middle Aged medicine.disease Immunohistochemistry 030104 developmental biology 030220 oncology & carcinogenesis Cancer research biology.protein Biomarker (medicine) Original Article Female Tumor Suppressor Protein p53 Breast carcinoma BREAST PATHOLOGY TUMOUR BIOLOGY |
| Zdroj: | Journal of Clinical Pathology |
| ISSN: | 1472-4146 0021-9746 |
| Popis: | Aims Metaplastic breast carcinoma (MBC) is a rare subtype of breast carcinoma less responsive to conventional chemotherapy than ductal carcinoma. In molecular terms, MBCs usually cluster with triple-negative breast cancers (TNBCs), but have a worse prognosis than TNBCs. Studies investigating MBCs for specific biomarkers of therapy response are rare and limited by the methodological approaches. The aim of the present study was to characterise MBCs on a molecular level and test programmed death-ligand 1 (PD-L1) biomarker expression in MBCs for future therapeutic interventions. Methods We profiled 297 samples (MBC (n=75), TNBC (n=106), human epidermal growth factor receptor 2 (HER2)-positive breast cancers (n=32) and hormone-positive breast cancers (n=84)) by next-generation sequencing. Immunohistochemistry for PD-L1 and programmed cell death 1 (PD-1) expression was performed using automated procedures. Results The most commonly mutated genes in MBCs included TP53 (56%) and PIK3CA (23%). Pathogenic mutations in other genes, including HRAS, FBXW7, PTEN, AKT1 and SMAD4, were rare. PD-L1 expression was detected in a significantly higher proportion of MBCs (46%) than in other subtypes (6% each in hormone-positive and HER2-positive breast cancers, and 9% in TNBC, not otherwise specified, p |
| Databáze: | OpenAIRE |
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