Doctors, researchers, and other medical professionals are gaining another tool to help them address the need for speedy diagnosis of gliomas and other clinical brain tumors. With the use of next generation sequencing, they are finding a method that allows for informed diagnosing, with a system that they can depend on for identifying mutations.

Recent next generation sequencing panels are showing scientists that there is value in using TruSight Tumor 170 to locate and identify diffuse glioma genetic markers. It’s meant for use in research studies in a clinical environment, to characterize the nature of tumors when creating a treatment plan.

Let’s, Deep Dive

The Role of Next Generation Sequencing in Identifying Brain Tumor Mutations

Brain Tumor Mutations

When it comes to brain tumors, it’s essential to know as precisely as possible the nature of mutations that lead to gliomas. As noted by a report from Illumina on “NGS Panels Demonstrate Value in Brain Tumor Studies,” about 30% of spinal cord and brain tumors are gliomas, and gliomas account for approximately 80% of brain tumors diagnosed today.

Mutations tend to occur most often in isocitrate dehydrogenase (IDH)1 and 2, when speaking about secondary high-grade or low-grade gliomas. Scientists have determined that patients have a longer prospect for survival when they have IDH1 or IDH2 type of mutant tumors, with a lower rate of survival in patients with so-called “wild type” gliomas of the IDH mutation variety. What’s of concern here is the fact that IDH1 gliomas are more resistant to therapeutic treatment, even though they are not so aggressive.

Illumina reported on a conversation with scientists at Severance Hospital in Seoul, South Korea — Se Hoon Kim, MD (a professor at the Department of Pathology and Kiyong Na, MD (a Department Fellow). They have been evaluating technology used to assess malignant brain tumors.

malignant brain tumors

Kim explained that they want to see how technology such as next generation sequencing operate in terms of reliability and speed. They particularly need to learn if there is clinically relevant data that they can obtain with NGS, to help researchers identify genetic markers when they test specimens in the neuropathology laboratory.

Currently their pathology lab in South Korea employs Sanger sequencing and qPCR as well as FISH, also known as fluorescent in situ hybridization, as they analyze samples from biopsied tumors.

The faster and more accurately they can obtain proven, reliable results from such high-speed tests, they can judge them for their cost-effectiveness and accuracy.

Colleague Kiyong Na noted that they have been using a TruSight Tumor 170 system to look at or verify that tumor biopsy samples under study have specific genetic markers. These markers are then evaluated for potential in makings better diagnostic efforts, as well as to devise new, customized treatment plans for individual patients. Specifically tailoring a cancer therapy based on a patient’s unique genetic variations and mutations should lead to more effective treatment.

According to Kiyong Na, “Using TruSight Tumor 170 and the NextSeq 550 System, our detection of EGFR amplification aligns with globally reported trends.”

Mayo Clinic Laboratories Studies Clinical Brain Tumor Findings in Glioma Patients

Clinical Findings

The Mayo Clinic Laboratories conducted a study on glioma patients (adults), with an eye toward evaluating the benefits of cytogetnic testing of their tumors.

They found that 75% of their patients had at least one clinically actionable finding with such testing. About 45% of the cases indicated diagnostic findings, while 34% showed prognostic findings. It’s also worth noting that researchers saw 54% of cases reporting predictive findings, involving NGS studies of glioma patients.

This bodes well for scientists and researchers who are interested in harnessing next generation sequencing as they do analysis to locate and identify various genetic mutations in glioma patients.

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