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Published on: April 28, 2021
Mismatch repair protein deficiency in triple-negative breast carcinomas
Bayan Maraqa1, Maxim Al-Ashhab1, Hamza Zughaier1
1Department of Pathology and Laboratory Medicine, King Hussein Cancer Center, Amman, Jordan.
Background:
Breast cancer, particularly triple-negative breast cancer (TNBC), poses a significant global health burden. Chemotherapy was the mainstay treatment for TNBC patients until immunotherapy was introduced. Studies indicate a noteworthy prevalence (0.2% to 18.6%) of mismatch repair protein (MMRP) deficiency in TNBC, with recent research highlighting the potential of immunotherapy for MMRP-deficient metastatic breast cancer. This study aims to identify MMRP deficiency in TNBC patients using immunohistochemistry.
Methods:
A retrospective cohort study design was used and included TNBC patients treated between 2015 and 2021 at King Hussein Cancer Center. Immunohistochemistry was conducted to assess MMRP expression.
Results:
Among 152 patients, 14 (9.2%) exhibited deficient MMR (dMMR). Loss of PMS2 expression was observed in 13 patients, 5 of whom showed loss of MLH1 expression. Loss of MSH6 and MSH2 expression was observed in one patient. The median follow-up duration was 44 (3-102) months. Despite the higher survival rate (80.8%, 5 years) of dMMR patients than of proficient MMR patients (62.3%), overall survival did not significantly differ between the two groups.
Conclusion:
Approximately 9% of TNBC patients exhibit dMMR. dMMR could be used to predict outcomes and identify patients with TNBC who may benefit from immunotherapy.
Insights
Approximately 9% of triple-negative breast cancer (TNBC) patients have deficient mismatch repair protein (dMMR). This deficiency may help predict outcomes and identify TNBC patients who could benefit from immunotherapy.
Area of Science:
- Oncology
- Cancer Research
- Immunotherapy
Background:
- Triple-negative breast cancer (TNBC) is a significant global health challenge.
- Mismatch repair protein (MMRP) deficiency occurs in 0.2%–18.6% of TNBC cases.
- Immunotherapy shows promise for MMRP-deficient metastatic breast cancer.
Purpose of the Study:
- To identify MMRP deficiency in TNBC patients.
- To evaluate the potential of MMRP deficiency as a predictive biomarker in TNBC.
Main Methods:
- Retrospective cohort study of TNBC patients (2015–2021).
- Immunohistochemistry used to assess MMRP expression.
- Analysis of 152 TNBC patients.
Main Results:
- 14 out of 152 patients (9.2%) had deficient MMR (dMMR).
- PMS2 loss was the most common deficiency, followed by MLH1, MSH6, and MSH2.
- dMMR patients had a higher 5-year survival rate (80.8%) than proficient MMR patients (62.3%), though overall survival did not significantly differ.
Conclusions:
- Around 9% of TNBC patients exhibit dMMR.
- MMRP deficiency can potentially predict outcomes in TNBC.
- dMMR status may identify TNBC patients suitable for immunotherapy.
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