SEOM diagnosis: "Tumor biomarkers by you and for you"

“Molecular diagnoses by means of massive sequencing (NGS), tumor biomarkers in oncology, are the true protagonists of the revolution that we are experiencing in cancer treatments”, they report from the Spanish Society of Medical Oncology (SEOM).

SEOM diagnosis: “Tumor biomarkers by you and for you”

Its two scientific secretaries, doctors Isabel Echavarría Díaz-Guardamino, medical oncologist at the Hospital General Universitario Gregorio Marañón, and Mónica Granja Ortega, medical oncologist at the Hospital Clínico Universitario San Carlos, highlight this great clinical and molecular advance in “SEOM Diagnosis”.

Precision oncology, which allows the specialist to make personalized decisions during all phases of treatment, is achieving data never seen before.

For example, survivals greater than five years in patients with lung cancer; and in some mutations, these values ​​are even exceeded in 50% of cases.

For countries like Spain, in 2022, a total of 280,101 new cases of cancer (160,066 in men and 120,035 in women) compared to 276,239 in 2021.

The most frequent cancers will be those of the colon and rectum (43,370), breast (34,750), lung (30,948), prostate (30,884), urinary bladder (22,295), non-Hodgkin’s lymphomas (9,514), pancreas (9,252), kidney (8,078 ), oral cavity and pharynx (7,779), stomach (6,773) and liver (6,604).

In men, prostate cancer (30,884), colon and rectum (26,862), lung (22,316) and urinary bladder (17,992) will be diagnosed; while in women those of the breast (34,750), colon and rectum (16,508) and lung (8,632).

Calculations made by the Spanish Network of Cancer Registries (REDECAN).

“To the continuous increase in new cases, we must add the impact of the delay of other undiagnosed cases during the different waves caused by the COVID-19 pandemic,” they point out from the SEOM.

What are tumor biomarkers and how are they obtained?

Biomarkers are tumor-specific molecules, whether they are abnormal proteins or mutated genes, that allow tumors to be subdivided and classified, even within the same location, in biologically different diseases, as may occur in patients with lung cancer or breast cancer. Dr. Ortega Farm

But you always have to get a sample of tumor tissue first, usually through a biopsy or blood sample for DNA extraction.

These samples will be sent to the corresponding laboratory, where they will be analyzed using specific staining techniques and visualized under a microscope, or molecular tests will be carried out to determine the gene or genes involved.

In addition, these biomarkers make it possible to group patients with tumors that behave in a similar way and, from the perspective of analysis, guide cancer treatments much better.

Specialists have two types of biomarkers: predictions and forecasts.

Predictive biomarkers are those that inform us about the probability of response to a specific treatment, and, therefore, allow us to guide treatment. These predictive biomarkers are what make precision medicine possible.

For their part, prognostic biomarkers are those that inform us about the evolution of the disease, and in particular, offer us more precise information about the expected survival for our patients, depending on their presence or not.

A present with a future of biomarkers “for everyone”

The tumors most likely to be treated in precision oncology are lung, breast, colorectal, gastric or cervical cancers. prostateso it is essential to share knowledge among all research groups so that the benefits quickly reach each and every one of the cancer patients. Doctor Echavarría Díaz-Guardamino

In relation to tumor biomarkers, the Spanish Ministry of Health reports that it is working, together with the Autonomous Communities, the scientific societies and the Carlos III Health Institute of Madrid, on the specification and updating of the common portfolio of services in the area of ​​genetics.

Currently, a group of experts is preparing the corresponding catalogue, as well as its updating procedure, including the area of ​​oncological biomarkers.

The planned objective will effectively and homogeneously implement precision medicine in the National Health System (SNS), guaranteeing the excellence of the provision and equity in its access to all people in the national territory.

From the SEOM, underline its scientific secretaries, a true revolution in oncology is verified by the hand of Precision Medicine.

This has been possible thanks to an ever deeper understanding of the biology of cancer through the identification of biomarkers, systematic molecular analyzes that condition the individuality of targeted treatments.

In this sense, the Spanish Society of Medical Oncology invites us to share this video:

Tumor Biomarkers

The journey of tumor cells in ten keys

The journey of tumor cells in the body obeys a series of complex mechanisms. The scientist Carlos López-Otín explains the ten keys to tumor processes, “the instruction book that cells must follow to transform themselves into selfish, mortal and traveling entities”

Carcinogenic cells. EFE/Rebeca Corcoles

Precisely “Selfish, mortal and traveler” (Editorial Paidós) is the title of the latest book by this biochemist and expert in the human genome, a journey to the heart of cancer that closes a trilogy on human vulnerability together with “Life in four letters” and «The dream of time».

In the chapter entitled “The essence of evil”, López-Otín tries to explain the complex processes of malignant cells based on the scientific and integrative vision of molecular oncologists Douglas Hanahan and Robert Weinberg who, first in the year 2000, and later in In 2011, they published scientific articles in “Cell” in which they described the characteristics of this journey to malignancy.

There are ten processes that cells follow to become malignant that do not keep a strict order, nor is there a specific time for each of them.

This general view of tumor processes opens the way to the development of new therapeutic strategies, now fundamentally based on one of them, the loss of control of cell proliferation.

“The future heralds the possibility of introducing alternative strategies aimed at intervening concomitantly on several of the distinctive properties of cancer that, as a whole, make up its true cellular and molecular essence”, affirms the also professor of the Oviedo University in his book.

The scientist and professor of biochemistry at the University of Oviedo, Carlos López-Otín, in an interview with EFE. EFE/Marshal

The processes that tumor cells go through

1.- Autoactivation of cell proliferation: One of the characteristics of tumor cells is their ability to grow and divide without control and one of the reasons is that some of the signals that determine the time and rate at which they should proliferate are altered.

two.- Insensitivity to cell growth inhibitors: But not all cells are capable of endless proliferation. To try to avoid it, biological evolution itself endowed the human being with a series of genes encoded for cell growth inhibitors.

“Among the genes that put pause and calm in the life of cells, two stand out, TP53 and RB”, but in tumor cells both are usually inactivated and proliferative chaos manages to prevail, explains the author.

3. Resistance to apoptosis: But the growth of tumors does not depend only on the rate of cell division, but also on the rate of cell death, which is called apoptosis.

Proteins are activated that help destroy damaged cells and thus prevent them from dividing further. But the journey on the part of these malignant cells continues to develop various strategies that free them from death, from apoptosis.

4.- Acquisition of replicative immortality: The path towards immortality of tumor cells, which began with the evasion of cell death mechanisms (apoptosis), is completed with the activation of a strategy that ignores the limit that indicates the maximum number of divisions that can undergo normal cells. They then reactivate telomerese, an enzyme with which they manage to jump that barrier and reach a state of replicative immortality that allows them to divide endlessly.

5.- Induction of angiogenesis: The process of formation of new blood vessels from existing vessels is known as angiogenesis and is essential for feeding the primary tumor and also metastases.

6.- Stimulation of invasion and metastasis mechanisms: Some cells of the primary tumor acquire additional mutations that allow them to invade the surrounding tissue, spread and colonize other territories to generate metastases. The journey begins with local invasion, passing through blood or lymphatic vessels and traveling to other distant tissues or organs. There, small nodules or micrometastasis are formed, the processes of angiogenesis (feeding) and colonization begin until a clinically detectable macrometastasis is generated.

7.- Reprogramming of energy metabolism: Tumor cells are metabolically reprogrammed to simultaneously guarantee the supply of energy and that of certain metabolic precursors. “This gives them a notable advantage over normal cells and allows them to continue growing and evolving to face the next stages of their progression,” explains López-Otín.

8.- They escape the immune system: The immune system tries to unmask the tumor cells that hide among the normal ones and activates innate immunity and adaptive immunity to eliminate them. But malignant cells develop immunomodulatory proteins that slow down the activity of the immune system that keeps them under control, as if asleep, for months or years until they wake up due to their tireless adaptive capacity or due to defects in the immune system caused, for example , by the passage of time or by situations such as stress.

9.- Chronic inflamation: The cells of the immune system are responsible for eliminating pre-tumor or tumor cells, a process that has a “dark side” by generating a chronic inflammatory response that favors all stages of tumor development. But it’s also common for inflammation caused by a variety of factors—from viral or bacterial infections to obesity—to contribute to cancer risk.

10. Genomic instability: If tumor cells did not acquire a state of genomic instability that promotes the rapid accumulation of mutations, cancer could not develop in most cases. Normal cells have mechanisms to avoid this instability (from the arrest of cell division to the repair of genetic material or cell death).

But tumor cells deactivate such mechanisms and a genomic instability is produced that stimulates the progression of cancer in this “selfish” and “wandering” journey, explains Dr. López-Otín.

Maite: niña Talcahuano con tumor necesita $150 millones - Biobío

Según explicó su propia familia, Maite “fue diagnosticada de neurofibroma plexiforme ciático, que es un tumor de tipo nervioso de gran tamaño que le afecta el nervio ciático, lo que a su vez genera una atrofia muscular en su pierna”.

Para ello, el tratamiento indicado es quimioterapia, resonancia magnética cada tres meses y el medicamento llamado “selumetinib”, cuyo valor es de 6 millones de pesos la caja y debe tomar dos de ellas al mes por un año.

Sus padres y familiares han iniciado una campaña solidaria a través de redes sociales, con la que esperan reunir el dinero y comprar el fármaco, el que sería administrado por primera vez en nuestro país.

Además de una rifa solidaria que se realizará el próximo 22 de mayo, la familia estableció varios canales de ayuda.

 

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