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Cancer research continues to evolve, with new tools and techniques available to labs around the world. Molecular profiling has become an essential tool in cancer research over the recent years. Targeted analysis methods are now commonplace in cancer research, tailored to genetic or protein biomarkers that may drive a patient's tumor growth metastasis, treatment resistance, and recurrence.
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The first step in any molecular or tumor profiling workflow is sample collection, which involves tissue biopsies and/or liquid biopsies. Liquid biopsy samples, such as blood, urine, and saliva, are often used to isolate circulating biomarkers including cell-free DNA (cfDNA), circulating tumor cells (CTCs), exosomes, and proteins which help provide insights into tumor dynamics, cancer progression and treatment response. Tissue biopsies allow for direct examination of tumor cells and their microenvironment, aiding in the identification of specific genetic or protein biomarkers. While tissue biopsy remains the standard for diagnostic purposes, liquid biopsy has shown promise in facilitating a more comprehensive view of cancer progression and in helping to guide more effective treatment decisions.
Liquid biopsy is a medical test that analyzes biofluids, primarily blood, to detect and monitor cancer and other diseases. Liquid biopsies are a less invasive alternative to traditional tissue biopsies and are particularly beneficial for ongoing cancer progression and monitoring.
Tumors release cancer cells and other biomarkers into the bloodstream that can be studied to indicate the presence, state, and type of disease. Analysis of a liquid biopsy involves isolating and examining circulating biomarkers within the sample, such as cell-free DNA (cfDNA), circulating tumor cells (CTCs), exosomes, and proteins. Effective isolation techniques leveraging magnetic bead-based technologies and automated workflows are important for accurate downstream detection and analysis. Multiomic analysis of these biomarkers gives researchers a more complete picture of the disease, enabling a comprehensive understanding of cancer biology, helping drive discovery in cancer research and development of personalized medicine.
cfDNA, including circulating tumor DNA (ctDNA), helps provide insights into early cancer detection, disease progression, and tumor genetics. Analyzing DNA fragments released by tumors into the blood can help guide more effective treatment options by identifying specific cancer-driving mutations to select targeted therapies, monitor treatment response, detect minimal residual disease (MRD), and predict treatment resistance.
CTCs serve as biomarkers for monitoring disease progression and treatment response. These cells are the origin of distant tumor metastases, making their presence and numbers in blood a sign of metastatic cancer. A high number of CTCs has been associated with a poor prognosis and a higher likelihood of cancer recurrence. By analyzing CTCs, researchers can gain a better understanding of disease progression, predict outcomes, and potentially develop effective targeted therapies.
Exosomes are small vesicles secreted by cells and are known for their role in facilitating intercellular communication by transporting biomolecules like miRNAs and proteins between cells. Cancer cells secrete a higher number of exosomes than normal cells and can influence the tumor microenvironment by carrying tumor-specific markers to recipient cells, promoting tumor growth and migration. Exosomes and their molecular contents have shown potential to serve as diagnostic, prognostic, and therapeutic tools, helping provide an understanding of cancer recurrence and progression and aiding in the development of targeted therapies and immunotherapies.
Tumor biopsy is the standard for cancer diagnosis, providing information about the genetic makeup of the tumor and the type of cancer. Samples for analysis include preserved tissues such as fresh frozen tissue and formalin-fixed paraffin-embedded (FFPE) tissue. FFPE tissue is widely used in cancer research due to its preservation of cellular morphology and long-term storage capabilities. However, processing FFPE samples efficiently and isolating nucleic acids from them requires specialized tools and techniques. Effective extraction methods are important to help ensure high-quality nucleic acids for downstream analyses, such as sequencing and molecular profiling, which are vital for understanding tumor biology and helping develop targeted therapies.
FFPE tissues are used in both prospective and retrospective cancer research. Several techniques and workflows can be employed to support molecular diagnostics and biomarker discovery applications utilizing solid tumor and FFPE samples such as next-generation sequencing (NGS), fluorescence in situ hybridization (FISH), hematoxylin and eosin (H&E) and immunohistochemistry (IHC).
NGS is often used for genomic and transcriptomic analyses, identifying specific mutations, copy number alterations, and gene fusions. NGS technologies can provide sequences for a wide range of genes enabling a comprehensive view of the genome. FISH uses fluorescent probes to detect genetic abnormalities in DNA, helping provide visual confirmation of genomic abnormalities to classify cancer types, predict prognosis, and guide treatment decisions.
Histological staining methods, such H&E and IHC, offer complementary diagnostic information. H&E examines tissue morphology and tumor cell content, aiding in identification of abnormalities and disease diagnosis. IHC detects specific proteins in tissues, enhancing diagnostic capabilities and contributing to therapeutic development.
For Research Use Only. Not for use in diagnostic procedures.