Molecular Tests Prove Essential for Proper Brain Cancer Diagnosis

CNS-PNET brain cancers are typically diagnosed by type according to their specific location in the brain as well as how they appear underneath a microscope. However, its recently become clear that more specific molecular tests must be conducted in order to properly diagnose an individual, especially for these types of brain cancers.

Researchers have made the shocking discovery that two completely different types of cancer with completely different molecular profiles can look exactly the same underneath the microscope. If diagnosed incorrectly using traditional means, the patient will receive an improper and completely ineffective treatment regime.

The effect of this new knowledge

There’s currently an ongoing trial at 150 different medical institutions across the world, working to determine which of two treatment options works best for different types of CNS-PNET brain cancer. But after this new data made it clear that we need to look more closely at the molecular makeup of cancer cells, researchers began backtracking to investigate whether participant’s diagnoses were accurate before continuing with the study.

What they found was shocking.

31 patients in the trial had been diagnosed with CNS-PNET through traditional means. Upon molecular examination (a test called DNA methylation profiling), it was found that 22 of the patients should have received a completely different diagnosis. In fact, their cancer was so different from CNS-PNET brain cancers that they shouldn’t have been involved in the trial at all.

As more of the participants were given proper diagnoses, the trial’s initial findings began to make more sense. Patients who actually had a supratentorial embryonal tumor instead of CNS-PNET did quite well with the treatment options. While others, such as the 18 diagnosed with glioblastoma, a very aggressive form of brain cancer, had much less positive results and a shorter life expectancy.

Researchers are now doing their best to ensure this new information becomes widespread.

The future

“At very least the study helps us give proper prognosis to families; hopefully what it will do is get more kids treated properly.”

Like many scientific findings, we wish we could have understood the molecular nuances of these diagnoses sooner. But looking toward the future, we hope that this new knowledge will improve the accuracy of diagnosis for patients, and guarantee they are receiving the proper care.

Researchers are encouraging patients to request DNA methylation profiling if their doctors don’t mention it themselves. It could significantly alter patient outcomes.

You can read more about these new findings here.

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