Mutation and immune profiling of metaplastic breast cancer: Correlation with survival

Autoři: Michelle Afkhami aff001;  Daniel Schmolze aff001;  Susan E. Yost aff002;  Paul H. Frankel aff003;  Andrew Dagis aff003;  Idoroenyi U. Amanam aff002;  Milhan Telatar aff001;  Kim Nguyen aff001;  Kim Wai Yu aff004;  Thehang Luu aff002;  Raju Pillai aff001;  Patricia A. Aoun aff001;  Joanne Mortimer aff002;  Yuan Yuan aff002
Působiště autorů: Department of Pathology, City of Hope Comprehensive Cancer Center, Duarte, CA, United States of America aff001;  Department of Medical Oncology & Therapeutic Research, City of Hope Comprehensive Cancer Center, Duarte, CA, United States of America aff002;  Department of Biostatistics, City of Hope Comprehensive Cancer Center, Duarte, CA, United States of America aff003;  Department of Clinical Pharmacy, City of Hope Comprehensive Cancer Center, Duarte, CA, United States of America aff004
Vyšlo v časopise: PLoS ONE 14(11)
Kategorie: Research Article
doi: 10.1371/journal.pone.0224726


The goal of this study is to characterize the genomic and immune profiles of metaplastic breast cancer (MpBC) and identify the association with survival through an analysis of archived tumor tissue. A next-generation sequencing-based mutational assay (Onco-48) was performed for 21 MpBC patients. Clinicopathologic characteristics were captured, including relapse free survival (RFS) and overall survival (OS). Immunohistochemistry (IHC) for CD3, CD4, CD8, and programmed death-ligand 1 (PD-L1) was also performed. Recurrence free survival (RFS) at 5 years was 57% (95% CI 0.34–0.75) and overall survival (OS) at 5 years was 66% (95% CI 0.41–0.82). The most commonly altered genes were TP53 (68.4%, 13/19), PIK3CA (42.1%, 8/19), and PTEN (15.8%, 3/19. For patients with PIK3CA mutations, RFS and OS were significantly worse than for those without (HR 5.6, 95% CI 1.33–23.1 and HR 8.0, 95% CI 1.53–41.7, respectively). Cox regression estimated that PD-L1 expression was associated with worse RFS and OS (HR 1.08, 95% CI 1.01–1.16 and HR 1.05, 95% CI 1.00–1.11, respectively, for an absolute increase in PD-L1 expression of 1%). In conclusion, PIK3CA mutation and PD-L1 expression confer poor prognosis in this cohort of patients with MpBC.

Klíčová slova:

Breast cancer – Cancer detection and diagnosis – Cancer chemotherapy – Cancer treatment – Cell staining – Immunohistochemistry techniques – Next-generation sequencing – Radiation therapy


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2019 Číslo 11