Breast cancer test
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Advances in Breast Cancer Testing: A Comprehensive Overview
Estrogen and Progesterone Receptor Testing in Breast Cancer
Importance of ER and PgR Testing
Estrogen receptor (ER) and progesterone receptor (PgR) testing are critical in the management of breast cancer. These tests help predict which patients will benefit from endocrine therapy. The American Society of Clinical Oncology (ASCO) and the College of American Pathologists (CAP) recommend ER testing of invasive breast cancers using validated immunohistochemistry (IHC) as the standard method .
Updated Guidelines
The updated guidelines suggest that breast cancer samples with 1% to 100% of tumor nuclei positive should be considered ER positive. However, for samples with 1% to 10% ER positivity, a new reporting category, ER Low Positive, is recommended due to limited data on the benefit of endocrine therapy in these cases. Samples with less than 1% ER positivity are considered ER negative . Similar principles apply to PgR testing, which is primarily used for prognostic purposes in ER-positive cancers. Testing for ER in ductal carcinoma in situ (DCIS) is recommended to assess the potential benefit of endocrine therapies, while PgR testing in DCIS is optional .
Blood-Based Breast Cancer Detection
Circulating Tumor Cells (CTCs)
Recent advancements have led to the development of blood-based tests for breast cancer detection. One such test focuses on the detection and profiling of circulating tumor cells (CTCs). This test has shown high accuracy and reliability, with a specificity of 100% and an overall sensitivity of 92.07% in a case-control study. The test is effective across various stages of breast cancer, demonstrating its potential as a non-invasive screening tool.
Syantra DX Breast Cancer Test
The Syantra DX Breast Cancer test is another promising blood-based assay. It evaluates the expression of 12 novel genes using a custom qPCR process and machine learning algorithms. Interim results from the International Identify Breast Cancer (IDBC) study indicate an accuracy of 92.2%, with a specificity of 94.3% and a sensitivity of 79.2% for cancer detection. The test is particularly effective in women under 50 and those with dense breast tissue, making it a valuable supplement to current imaging approaches.
Ultrasound and Other Imaging Technologies
Ultrasound as a Primary Screening Tool
Ultrasound (US) has been evaluated as an alternative to mammography for breast cancer screening, especially in regions where mammography is not widely available. Studies have shown that US has a comparable cancer detection rate to mammography, with a higher detection rate for invasive and node-negative cancers. However, US also has higher recall and biopsy rates, leading to more false positives.
Emerging Imaging Technologies
Other emerging imaging technologies include magnetic resonance imaging (MRI), full-field digital mammography (FFDM), and computer-aided detection (CAD). MRI may offer better sensitivity than mammography in high-risk women, while FFDM and CAD show potential in enhancing cancer detection and reducing recall rates. However, more research is needed to support their use in population screening.
Non-Invasive Biomarkers
Liquid Biopsy
Liquid biopsy, which involves analyzing body fluids for cancer biomarkers, is gaining attention as a non-invasive method for early breast cancer detection. Advances in analytical techniques have enabled the detection of circulating tumor cells, cell-free tumor nucleic acids, microRNAs, and extracellular vesicles in blood, nipple aspirate fluid, sweat, urine, and breath. These biomarkers hold promise for supplementing current clinical approaches and improving early detection.
Blood-Based mRNA Tests
Blood-based mRNA tests are emerging as diagnostic tools for personalized medicine in breast cancer. These tests offer several advantages over tissue-based tests, including minimal invasiveness and cost-efficiency. They can detect breast cancer early and provide valuable information for clinical management, such as assessing recurrence risk and guiding treatment decisions.
Conclusion
The landscape of breast cancer testing is rapidly evolving with advancements in receptor testing, blood-based assays, imaging technologies, and non-invasive biomarkers. These innovations hold promise for improving early detection, personalized treatment, and overall patient outcomes. Continued research and validation are essential to integrate these new technologies into routine clinical practice effectively.
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