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Molecular Profiling for Precision Cancer Therapy – How Does It Work?


As a result of genetic (molecular) mutations that we either acquire or inherit from our parents, cancer develops when abnormal cells grow out of control. The cancer cells of every tumor have a different set of molecular alterations. A molecular profiling analysis, made feasible by technological advancements, enables medical professionals to determine the genetic distinction between cancer cells and healthy cells. The results of molecular tests give doctors the information that they need to assess which genes have been altered. Your doctor can determine whether one treatment may be more effective for you than another by locating these alterations. Today, distinct combinations of tumor specific biomarkers can be found, which can aid in cancer diagnosis, prognosis (likely outcome), and treatment. How a patient will react to a certain medicine may be predicted based on the type and quantity of mutations and the expression level of different genes. The invention of customized, highly targeted, and efficient therapies that can enhance patient outcomes is the ultimate goal of molecular profiling.

A Brief Overview of Molecular Profiling

It could be easier to comprehend if you imagine your body as an extremely intricate piece of fabric. The strands that make up this fabric now originate from both your father’s and your mother’s side of the family. Your cells have genes which function almost like a collection of instructions inside that thread. When your cells reproduce normally, the fabric of your body remains healthy, but occasionally your genes mutate and produce errors. Sometimes these errors are brought on by environmental factors, such as exposure to radiation or specific chemicals, and if certain genes mutate and reproduce unchecked, cancer may develop. The good news is that these mutations leave behind biomarkers, which are indicators that they have occurred. Biomarkers are a biological molecule that can be discovered in tissues, bodily fluids, or blood and is a symptom of a condition, disease, or a normal or pathological process. To determine how well the body responds to a disease or condition treatment, a biomarker may be utilized. In some cases, the biomarkers are made by the tumours themselves, while in other cases they are produced by the body’s own immune system in response to the cancer. Either way that’s where molecular profiling comes in and can be incredibly useful. It is a technique used in laboratories to examine a sample of tissue, blood, or another bodily fluid for certain genes, proteins, or other substances that could be indicators of a condition of illness, such as cancer. Molecular profiling can also be used to check for certain changes in a gene or chromosome that may increase a person’s risk of developing cancer or other diseases. Cancers can be diagnosed with the aid of molecular profiling in conjunction with other traditional approaches. It can also be used to make a prognosis or predict whether cancer will return or spread to other body parts whilst also being used to help plan treatment.

Molecular Tumor Board

A Molecular Tumor Board is a committed team of medical professionals who assess difficult-to-treat tumors and offer a specialized option for healthcare practitioners. It has additionally been referred to as a Sequencing Tumor Board and is distinguished by the extensive use of molecular analysis for a single patient. In order to use the enormous amount of information appropriately, there is an increasing need to involve multiple domain specialists in decision-making as precision oncology develops. Access to additional knowledge is also important in the community environment as generalist oncologists now need to manage genetic data in addition to clinical information. In a clinical setting, molecular tumor boards can be conducted virtually or in real time. Ideally, members would include pathologists, genetic counselors, and research staff in addition to medical, surgical, and radiation oncologists, as would be found on any typical tumor board. Commercial laboratories frequently have access to additional knowledge in the form of molecular pathologists and molecular geneticists. Access to bio-statisticians, bioinformaticians, epidemiologists, and translational scientists may be available to participate in more advanced practice settings. For the purpose of making variant-therapy linkages during molecular tumor boards, numerous databases are openly searchable. In order to determine whether a particular therapy is appropriate for a patient, a variety of free, often updated, and carefully selected websites provide information on a wide range of options which can be especially useful to the practicing clinician in helping ascertain whether a particular therapy is right for a patient.

What Molecular Profiling Methods Utilized & How They Function

Molecular profiling uses various technologies to identify cancer biomarkers. For example, Immunohistochemistry or IHC, Fluorescence in situ hybridization that is commonly called FISH, Next-Generation Sequencing (NGS), and Quantitative Polymerase Chain Reaction, often known as qPCR, are some frequent molecular profiling procedures. Once you get past the extremely long nomenclature, the testing itself is fairly basic. The majority of the tests call for a lymph node, bone marrow, or tumor cell biopsy, while some may only need a quick blood sample. After these tests are finished, medical professionals can examine patient’s biomarkers and unique genetic makeup in detail. Oncologists may use the tests to detect the specific type of blood cancer, and they may also use them to precisely count the number of remaining cancer cells in the body. Some biomarkers can even assist oncologists decide which individual medicines could be most effective for the patient, including determining which specific therapies might also work best for them. This process has been used in oncology for over two decades and has been instrumental in the development of new cancer therapies, molecular profiling has been assisting doctors to diagnose patients with cancers that are difficult to detect, such as lung cancer or pancreatic cancer and it can also help those doctors to identify patients who may be resistant to certain treatments or drug combinations, which could lead to more beneficial and effective treatment methods for them. Molecular profiling’s promise to personalize care for each patient’s particular genetic makeup is what makes it so incredible, and that’s why oncologists and clinical researchers keep up their excellent work. Despite the fact that each of us is made of a unique genetic fabric, we all share the same thread of hope that cancer can be permanently defeated.

Immunohistochemistry (IHC): This laboratory test makes use of antibodies to find certain antigens (markers) in tissue taken from a biopsy. Fluorescent dyes or enzymes connected to the antibodies are triggered when they attach to the antigen in the tissue sample, making the antigen visible under a microscope. The information provided by immunohistochemistry aids in the diagnosis of diseases like cancer. It can also be utilized to differentiate between various cancer kinds. The same concepts apply to a test known as “flow cytometry,” except that it is carried out on a suspension of cells in a liquid as opposed to cells implanted in a tissue sample. This type of molecular profiling method is an important technique for precision medicine in oncology because it can be used to detect cancer cells and determine their sub-types.

Next-Generation Sequencing (NGS): The phrase “NGS” refers to a variety of sequencing methods. NGS tests rapidly examine stretches of DNA or RNA. They provide information on prognosis and treatment by identifying DNA mutations, copy number variations, and gene fusions and expression levels throughout the genome. The DNA is read in short segments and each segment is then translated into a series of letters, which can be used to diagnose diseases and genetic disorders. It can also be used to identify mutations in cancer cells or determine the presence of infectious diseases like HIV or Lyme disease.

Fluorescence in situ Hybridization (FISH): FISH is a laboratory method for analyzing chromosomal genes and/or DNA sequences. Tests on the blood or marrow are used to remove cells and tissue. Segments of DNA are transformed in the lab by the addiction of fluorescent dye, and the modified DNA is then put to cells or tissues on a glass plate. When seen under a microscope using a special light, these DNA fragments “glow” when they bind to particular genes or regions of chromosomes on the plate. This makes it possible to pinpoint chromosomal regions that have changes in size, quantity, or arrangement. Fluorescence in situ Hybridization can be useful for diagnosis, risk assessment, determining the need for treatment, and gauging the efficacy of that treatment.

Quantitative Polymerase Chain Reaction (qPCR): This method amplifies minute amounts of DNA so that a particular DNA section can be examined. An extremely low concentration of blood cancer cells – too few to be detected under a microscope – can now be found using this method. One blood cancer cell among 100,000 to 1,000,000 healthy blood cells can be found using a qPCR test. This test utilizes a patient’s blood or bone marrow in order to achieve the set goal and it is an important tool in molecular biology as PCR can be used to amplify any small amount of DNA into large quantities. This is useful because it allows us to study things like bacteria and viruses that are too small for us to see with our own eyes.

Conclusion & Recommendations

Precision Medicine, The National Cancer Institute defines precision medicine, commonly referred to as “personalized medicine,” as “a style of medicine that uses information about a person’s genes, proteins, and environment to prevent, diagnose, and treat disease.” In the past 20 years, the discovery and improvement of molecular profiling and the tools it has provided has given rise to precision medicine. By interfering with DNA and the mechanics of cell division, cytotoxic medicines (drugs that are harmful to cells) kill rapidly dividing cells, whereas molecular targeted therapies regulate the activity of certain molecular targets in cell signalling, proliferation, metabolism, and death. Instead of simply the one or two alterations that were first suspected, the majority of tumors include numerous mutations. This is a significant recent finding that explains why medicines intended to target a single mutation may not always be completely effective. The current issue for scientists and medical professionals is to make use of the data that molecular profiling gives and to ascertain its implications for targeted therapy. Targeted therapies can treat an illness more effectively, with fewer side effects, and with a higher likelihood of success. Although precision oncology provides immediate clinical benefits, its potential for the future is far larger. With the rapid advancement of technology, it is now possible to examine various molecular components that influence tumor behaviours and serve as potential targets for novel therapies, expanding our ability to go beyond single DNA mutation. The development of innovative clinical trial designs, the collection of clinical and molecular data in real-world databases, and careful analysis to identify pertinent target-agent relationships will all be necessary for the responsible use of this amazing technology. In the end, the strategy must demonstrate its efficacy for particular patient populations. In order to assist oncologists in making the best options possible, the practicing oncologist should make an effort to comprehend the strengths and weaknesses of the current testing and treatment landscape.

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