Researchers Develop Novel Way to Detect Pediatric Brain-Cancer Mutations

Uppsala University researchers have created a novel method for detecting brain-cancer mutations in children, granting scientists an unprecedented glimpse into the inner workings of pediatric brain tumors. The novel technique allowed the researchers to determine that the mutations they saw changed how tumor cells interact with cancer drugs, potentially opening the door for the development of better means of diagnosing pediatric brain cancer and building personalized treatment plans.

Medulloblastoma, a type of brain tumor that originates in the cerebellum, is the most common type of brain cancer in children. It has a 70% survival rate after five years if treatment begins before the cancer has spread to the spinal column and a 60% success rate if the tumor has spread.

Current medulloblastoma treatment protocols involve surgery to remove as much of the tumor as possible while obtaining a tumor sample to inform further treatment plans (chemotherapy, radiation and clinical trials). In particularly aggressive cases, survivors often have to deal with adverse side effects of treatment, such as diminished learning abilities and balance problems.

Although prior studies have analyzed some of the mutations that occur in human DNA to give rise to cancerous growths, these studies have looked at less than 98% of the mutations that could play an underlying role in cancer development.

To parse through the hundreds to thousands of mutations that may be responsible for driving the proliferation of cancer cells, researchers from Uppsala University in Sweden used a novel method to analyze mutations in pediatric medulloblastoma patients. Building off the assumption that DNA sequences that have been conserved through millions of years must have crucial functions, the researchers discovered that 114 mutations out of 200,000 in 145 patients remained conserved within the genome.

Many of these mutations were new discoveries and they occurred in sections of the DNA containing instructions on the location, time and amount of proteins to be made, adding onto past studies, which found that medulloblastomas often had differing protein levels.  Colead researcher Karin Forsberg-Nilsson posits that the mutations discovered at the “best-preserved positions” may be the most important in gene regulation activities.

The new method allowed Forsberg-Nilsson and her fellow researchers to analyze mutations in different age groups and across different medulloblastoma subgroups.

Study colead Kerstin Lindblad-Toh said that the team’s findings show the functionality of the novel method, stating that it would finally give researchers a better picture of how mutations affect cancer cell protein levels.

As it becomes easier to detect and track the mutations that happen in different cancers, drug manufacturers such as CNS Pharmaceuticals Inc. (NASDAQ: CNSP) may find it easier to develop formulations that are better equipped to keep in check or even reverse the progress of some of the hardest cancers to treat.

NOTE TO INVESTORS: The latest news and updates relating to CNS Pharmaceuticals Inc. (NASDAQ: CNSP) are available in the company’s newsroom at

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