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Published on: February 5, 2020
Effect and biomarker of immune checkpoint blockade therapy for ARID1A deficiency cancers
Li Wang1, Jialin Qu1, Na Zhou1
1Precision Medicine Center of Oncology, The Affiliated Hospital of Qingdao University, Qingdao University, Qingdao 266003, China.
Abstract:
The AT-rich interaction domain 1A (ARID1A) are frequently mutates across a broad spectrum of cancers. The majority of ARID1A mutations are inactivating mutations and lead to loss expression of the ARID1A protein. To date, clinical applicable targeted cancer therapy based on ARID1A mutational status has not been described. With increasing number of studies reported that the ARID1A deficiency may be a novel predictive biomarker for immune checkpoint blockade (ICB) treatment. ARID1A deficiency would compromise mismatch repair pathway and increase the number of tumor-infiltrating lymphocytes, tumor mutation burden and expression of programmed cell death ligand 1 (PD-L1) in some cancers, which would suggested cooperate with ICB treatment. In this review, we summarize the relationship between ARID1A deficiency and ICB treatment including potential mechanisms, potential therapeutic combination, and the biomarker value of ARID1A deficiency.
Insights
ARID1A deficiency, often inactivating, shows promise as a biomarker for immune checkpoint blockade (ICB) cancer therapy. This deficiency may enhance ICB effectiveness by impacting DNA repair and immune cell infiltration.
Area of Science:
- Oncology
- Cancer Genomics
- Immunotherapy
Background:
- Mutations in AT-rich interaction domain 1A (ARID1A) are common across many cancers.
- Most ARID1A mutations are inactivating, leading to reduced ARID1A protein expression.
- Targeted cancer therapies based on ARID1A status are currently lacking.
Purpose of the Study:
- To review the link between ARID1A deficiency and immune checkpoint blockade (ICB) treatment efficacy.
- To explore the potential of ARID1A deficiency as a predictive biomarker for ICB therapy.
- To summarize mechanisms, therapeutic combinations, and biomarker value of ARID1A deficiency in cancer.
Main Methods:
- Literature review synthesizing current research on ARID1A mutations and ICB.
- Analysis of studies investigating the impact of ARID1A deficiency on cancer immunity.
- Examination of ARID1A's role in DNA repair, tumor mutation burden, and immune cell infiltration.
Main Results:
- ARID1A deficiency is increasingly recognized as a potential predictive biomarker for ICB.
- Deficiency may enhance ICB response by compromising mismatch repair, increasing tumor mutation burden, and promoting T-cell infiltration.
- ARID1A deficiency correlates with increased programmed cell death ligand 1 (PD-L1) expression in certain cancers.
Conclusions:
- ARID1A deficiency presents a promising biomarker for predicting response to immune checkpoint blockade therapy.
- Understanding the mechanisms underlying ARID1A deficiency's impact on the tumor immune microenvironment is crucial.
- Further research into ARID1A-targeted strategies and combinations with ICB is warranted.
