Childhood cancer is considered a rare disease. In Spain, 1,500 cases are diagnosed each year, and according to the World Health Organization (WHO), approximately 400,000 children and adolescents aged 0 to 19 suffer from cancer worldwide each year.
Currently, the incidence is 4.5 cases per 100,000 children. As it is below 2,000 cases per 100,000 children, the threshold for it to cease being considered a rare disease, pediatric cancer is classified as rare, and as such, few resources are allocated to its research.
Among pediatric tumors, brain cancer is one of the most frequent, with medulloblastoma being the most common type of brain cancer.
Dr. Seoane: Director of Translational Research at the Vall d’Hebron Institute of Oncology (VHIO).
At the Vall d’Hebron Institute of Oncology, a project promoted by the FERO Foundation and led by Dr. Joan Seoane, utilizes the liquid biopsy technique for the study of medulloblastoma, with the aim of understanding the characteristics of each particular case and offering personalized treatment. Dr. Seoane warns that both the heterogeneity of this disease and its evolution over time make its diagnosis, monitoring, and treatment difficult, as each tumor has different biological characteristics, prognoses, and treatment sensitivities.
Liquid Biopsy in the Study of Pediatric Brain Cancer
The project studies the DNA circulating in the cerebrospinal fluid (the fluid that bathes the brain and is in contact with the brain tumor) in pediatric patients with suspected medulloblastoma relapse using the liquid biopsy technique.
Dr. Ana Vivancos, head of the Cancer Genomics Group at VHIO, explains that “Liquid biopsy is the study of any body fluid to find molecular data about tumors”. To learn more about liquid biopsy, refer to the blog post “With the latest advances in research, cancer has no future.”
Through a lumbar puncture, similar to an epidural injection, we can obtain a cerebrospinal fluid sample, from which we extract DNA, and in this way, characterize the brain tumor without having to perform a high-risk operation.
“Thanks to our ability to analyze DNA from cerebrospinal fluid, we can provide information about this tumor to characterize it and determine not only its diagnosis but also its prognosis, and in some cases, identify therapeutic targets that allow us to treat it more effectively,” comments Dr. Seoane, project leader.
The main objective of the project is to understand each tumor and create a specific and precise treatment for each diagnosis, in order to treat children accurately and personally, avoiding overtreatment or insufficient intensity for very aggressive tumors.
In addition to designing more appropriate treatments to improve patients’ life expectancy, the study could help in the early detection of relapses and differentiate between relapses and false progressions.
The Challenges of Medulloblastoma, the Most Common Brain Cancer
The treatment of medulloblastoma presents many challenges, as, as we have mentioned, it is a complex and heterogeneous tumor with a wide range of prognoses and different evolutions.
Currently, the first treatment option is surgical removal of the tumor. However, medulloblastoma evolves over time, and it is not always possible to acquire new samples from the affected brain area to check for changes in the tumor in order to establish the most appropriate treatment at any given time. In this sense, obtaining periodic cerebrospinal fluid samples offers us the possibility of this temporal monitoring and allows us to evaluate whether the patient is responding to treatment or needs another course of action.
Furthermore, we must consider that relapse can occur in up to 30% of patients, and this is the main cause of mortality in patients with medulloblastoma.
In this context, the development of a technique that is as minimally invasive as possible, such as obtaining cerebrospinal fluid samples, which allows for the molecular characterization of the disease, represents a great advance in the treatment of patients with medulloblastoma.
Results of the Pediatric Cancer Research Project
According to Dr. Seoane, “The results of this work point to a promising path for the management of pediatric medulloblastoma patients, which will improve the diagnosis and prognosis of the disease, identify potential therapeutic targets, and understand how the tumor changes over time to be more precise and effective in treatments.”
In addition, Dr. Laura Escudero, a researcher in the gene expression and cancer laboratory and co-leader of the project, highlights that “thanks to this technique, we can study the levels of this circulating tumor DNA in the cerebrospinal fluid; if the patient is responding, we can see how the levels decrease. And even vice versa, in case of relapse, we could detect it earlier than with other less sensitive techniques.”
Although rare, it is a disease with a great social impact, and to cure it, we need more research. If you want to support this project and help us dream of a future without cancer, click here: Adding hours of research.
