Molecular profiling of tumors for precision therapies
Precision medicine enables the implementation of targeted therapies based on specific molecular biomarkers of tumors. Modern molecular biology techniques, such as tumor DNA sequencing, allow for determining the molecular profile of tumors and applying precision therapies that act on specific molecular targets within the tumor tissue. A key diagnostic tool in this treatment approach is tumor molecular profiling, which includes genetic analysis of DNA and RNA from formalin-fixed paraffin-embedded (FFPE) tumor tissue and/or circulating tumor DNA (ctDNA) obtained from liquid biopsy samples.
For which types of cancer is molecular profiling recommended?
This testing is available for all types of solid tumors and is particularly recommended for patients with cancers of the colon and rectum, lungs, breast, ovaries, prostate, stomach, liver, skin, bladder, melanoma, and metastatic tumors of unknown primary origin.
Tumor Tissue Testing
Molecular profiling of tumor DNA and RNA from formalin-fixed paraffin-embedded (FFPE) tumor tissue samples is the gold standard for molecular diagnostics and determining precision therapies as instructed by your oncology specialist. The process of molecular profiling includes analyzing genetic material (tumor DNA and RNA) isolated from the paraffin block to identify specific mutations in the tumor tissue that may play a key role in tumor development, growth, and progression. Tumor DNA and RNA profiling is essential as it allows for tailoring therapies to the specific genetic characteristics of the tumor (targeted therapy), increasing treatment effectiveness, improving patient outcomes, and reducing treatment side effects.
Liquid Biopsy
Liquid biopsy is a non-invasive method that allows the analysis of circulating tumor DNA (ctDNA) from a patient’s blood sample, and it is especially valuable when a traditional tumor tissue biopsy is not feasible or in cases of metastatic disease. Free-circulating tumor DNA is released into the bloodstream from tumor cells and can be detected and analyzed to identify specific mutations that may play a critical role in tumor progression. Liquid biopsy also enables monitoring changes in tumor DNA over time. Through ctDNA analysis, physicians can track changes in the genetic profile of tumors, helping to detect the development of drug resistance and disease progression. The results of this testing are particularly useful for patients already undergoing therapy for tumor treatment, allowing treatment adjustments based on the current disease state. This provides information for timely intervention and adapting therapy when cancer no longer responds to the current treatment.
How to schedule an appointment?
To undergo molecular profiling of a tumor, an appointment can be scheduled at the Genetic Counseling Clinic of St. Catherine's Specialty Hospital. Depending on the type of sample (tissue biopsy or liquid biopsy), the appropriate sample should be brought to the appointment.
What will you need?
If testing is based on a tissue biopsy sample, the patient must bring a formalin-fixed paraffin-embedded (FFPE) tumor tissue block along with the corresponding documentation (pathohistological report (PHD)).
For liquid biopsy testing, the appropriate blood sample is taken at St. Catherine's Specialty Hospital using a tube specifically designed for this type of sample. The blood collection process is simple, quick, and does not require fasting. It is important to collect the sample at least 10 days after the last chemotherapy or other tumor-targeting treatment. To make the blood draw easier, it is recommended that the patient is well-hydrated. A sterile, single-use needle and vacuum tube are used for the blood draw. After the blood is taken, the patient should keep their arm extended and press a cotton pad on the puncture site for 5 minutes.
The results of the genetic testing will be available within 4 weeks.
