Science

The genetic science of ultra -rare brain tumor unveiled other treatment possibilities

The intracranial epidermal cyst is a super sparse brain tumor. Although it grows slowly, the key parts of the brain can cause serious problems. Dr. Carolina Parada, a researcher at the University of Washington Medical Center, and Manuel Ferreira (JR. Their innovation work published in the “Cancer” magazine emphasizes how these tumors develop and act important discoveries Essence

The team uses a cutting -edge method called “The entire outer appende” sequencing. The technology focuses on the decoding DNA part that is responsible for generating protein to study the genetic composition of intracranial epidermal -like cysts. “The epidermal cyst has not been studied too much, because they are so rare. As a result, surgery is still the most effective treatment option. When the cyst is located near the critical brain structure, the operation will become complicated, and in some cases may not be feasible Although these cysts usually grow slowly, there is a risk of vicious conversion over time. Unfortunately, these patients have no effective drug therapy. Dr. Manuel Ferreira pointed out: “By using advanced genetic technologies, we can identify mutations and biological pathways that cause malignant tumors in these tumors, so that we can target existing drugs and and Stop them ”

Their studies have found that many genetic changes, including specific mutations related to the immune system and surrounding cells, are called extracellular matrix, which plays an important role in cell interaction, enabling them to perform their biological functions. “The genetics of epidermal cysts used to be unknown before. These results are exciting because they support the existence of tumor -friendly mechanisms. This mechanism can manipulate the immune system to avoid the detection of human immune systems and promote tumor progress.” Carolina Dr. Parada explained.

Another main discovery is to find mutations in two key genes notch2 and USP8. These genes have written effects in cell signal conduction and protein regulation, and known mutations can promote cell proliferation and immune escape in other malignant tumors. Interestingly, mutations of these genes affect most of the cases included in the study. “The identification of recurrence and mutation in NOTCH2 and USP8, which usually change and charging in good tumors, provides information about valuable in intracranial epidermal -like cysts; the genetic stones of these tumors have not been explored before.” Explanation said that Parara Dr. Da.

The study also shows that these tumors are related to the main class associations of phosphate 3-kinase (PI3K), protein kinase B (AKT), and mastoid-type latterromycin (MTOR) pathway. “PI3K-Akt-MTOR is a driving force for good cancer. Dr. Ferreira said that inhibitors for this path have been approved by the FDA and provided major benefits for patients with tumor,” said Dr. Ferreira.

Another important aspect of research is concentrated in the relationship between frequent changes. Notch2, USP8 and PI3K-Akt-MTOR are also closely related to the immune response in cancer research, which supports the concept of the immune system escape that may play a vital role in the development of intracranial epidermal cysts. “All these genetic changes show that these brain cysts may hide in the immune system, enable them to grow and progress, and open the door to help the immune system recognition and attack these tumors.” Notice Fei Lei Lei noticed Frey Dr. La.

Researchers also emphasized the use of existing drugs in a new way to target the potential of these gene mutations. For example, drugs that can treat cells that have been used to treat certain cancers block the NOTCH2 signaling pathways can adapt to these brain cysts. Similarly, drugs for PI3K-AKT-MTOR pathways can also provide another treatment option. Immunotherapy may have hope for intracranial epidermal cysts, because it can help patients’ immune systems fight tumors while inhibiting the ability of tumor escapes the immune system. “

Dr. Parada emphasizes the importance of these discoveries: “By understanding the genetic changes and mechanisms of driving these brain tumors, we can be committed to developing the treatment of surgery. This is an effective choice, but for all cases, for all cases Not feasible. “

This study marks the major progress in obtaining, providing a deeper understanding of the mechanism behind these rare tumors and paving the way for the development of other therapies.

Journal reference

Kondaboina, S. ; Europe Parry; Parada, California; Ferreira, M., JR. “The sequence of the entire outer subclase of the intracranial epidermal -like cyst revealed the mechanical and potential targets related to immunization.” Cancer, 2024. Doi: https: //doi.org/10.3390/cancers16203487

About the author

Dr. Carolina ParadaMaster’s degree, doctoral degree, is a assistant professor at the University of Washington Medical College and a member of the Fred Harchinson Cancer Center. Her research lies in the intersection of biomedicine and computer science, where she uses the method of Domo scientific methods of human surgery specimens. By integrated multiple molecular layers of the disease, her goal is to discover potential mechanisms and determine the clinical value target that can work available. Dr. Parada also adopts advanced algorithm and machine learning technology to predict the treatment of reactions and pre -treat rare cancer. Through these efforts, she tried to accelerate the implementation of precise medicine in clinical practice.

Manuel Ferreira (Manuel Ferreira)Doctor of Medicine, Ph.D., is the head of neurosurgery of UW Medicine, co -director of UW Medicine’s Alvord Brain Cancer Center, Director of Slutia Basic and Minimally Invasive Neurological Surgery, as well as the Chief of Surgery of Multi -disciplinary pituitary Plan. He is also a professor and vice -chairman of neurosurgery and served as Chairman of Chap and EVE Alvord and Elias Alvord of neuromanology.
Dr. Ferrara received a doctorate in medical degree at Georgen University. He obtained the certification of the board of directors and received scholarship training in the treatment of brain and skull composite tumors. His clinical majors include multi -mode treatment for skull bottom, brain and spinal cord tumors. His laboratory uses human surgical specimens and multi -word to study the resistance and sensitivity of tumor and vascular lesions.

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