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Updated: Aug 5, 2026
11:12
Optimization of a Multiplex RNA-based Expression Assay Using Breast Cancer Archival Material
Published on: August 1, 2018
Correlation between ESR1 mutation and PD-L1 expression in breast carcinoma: A narrative review
1Department of Pathology, Shri Rawatpura Sarkar Institute of medical Sciences and Research, Raipur, Chhattisgarh, India.
Critical Reviews in Oncology/Hematology
|August 1, 2026
Summary
Estrogen receptor alpha (ESR1) mutations in breast cancer drive immune evasion by upregulating PD-L1. Targeting these mutations alongside immune checkpoints offers new therapeutic strategies for advanced disease.
Area of Science:
- Oncology
- Immunology
- Genetics
Background:
- Estrogen receptor alpha (ESR1) mutations are prevalent in metastatic hormone receptor-positive breast cancers post-endocrine therapy.
- These mutations lead to constitutive receptor signaling and are linked to tumor immune evasion via PD-L1.
Purpose of the Study:
- To investigate the relationship between ESR1 mutations and PD-L1 expression in breast cancer.
- To explore the implications for immune microenvironment and therapeutic strategies.
Main Methods:
- A comprehensive literature review was performed.
- The review examined ESR1 mutation biology, PD-L1 expression, immune microenvironment, and their mechanistic links in breast cancer.
Main Results:
- ESR1 mutations (e.g., D538G, Y537S) promote basal-like transformation and immune pathway activation.
- Tumors with ESR1 mutations show increased infiltration of immunosuppressive immune cells, including PD-L1-positive macrophages.
- These mutations upregulate immunosuppressive proteins, correlating with enhanced PD-L1 expression and a remodeled immune microenvironment.
Conclusions:
- ESR1 mutations are associated with PD-L1 upregulation, presenting therapeutic challenges and opportunities.
- Potential strategies include immunotherapy targeting ESR1-derived neoepitopes and combination therapy for endocrine resistance and immune evasion.
- Early immunotherapy intervention in ESR1-mutated breast cancer, potentially combined with hormone therapy, may improve outcomes.
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