Glioblastoma refers to all tumors originating from the neuroepithelium. Compared to other common malignant tumors, glioblastoma is less widely recognized by the public, yet it is the most prevalent primary tumor of the central nervous system.According to data from China's National Health Commission, the annual incidence rate of brain glioma in China ranges from 5 to 8 per 100,000 people. Treatment is challenging, with high rates of disability and mortality; its five-year mortality rate ranks third only to pancreatic and lung cancer. Therefore, early screening, diagnosis, and surgery are crucial for glioma treatment.
Recently, a research team at Massachusetts General Hospital in the United States developed an enhanced liquid biopsy technology capable of accurately detecting genetic mutations in blood samples that may trigger common adult gliomas. This breakthrough holds promise for significantly improving glioma diagnosis and monitoring. The study has been published in the journal Clinical Cancer Research.
>By comparing blood samples and tumor biopsy tissues from patients with the same glioma, neurosurgery researchers Dr. Leonora Balaj and Dr. Bob S. Carter at Massachusetts General Hospital discovered that their novel digital droplet polymerase chain reaction (ddPCR) blood test can accurately detect and monitor two mutations in the TERT gene—C228T and C250T.These mutations are prevalent in at least 60% of brain gliomas and 80% of high-grade gliomas.
Liquid biopsy refers to a tumor detection method based on human blood. While this technology has proven effective for certain systemic cancers, it has not yet been applied to brain tumors.Dr. Balaj explained: "Applying liquid biopsy to brain tumor detection is particularly challenging because the levels of mutated DNA from brain tumors entering the bloodstream are lower than those from other tumor types. By refining the ddPCR assay, we have demonstrated for the first time that the most prevalent mutations in malignant brain gliomas can be detected in blood, opening new avenues for brain tumor detection and monitoring."
Researchers first validated the ddPCR assay's performance in tumor tissue, finding results fully consistent with independent clinical testing evaluating TERT mutations in tumor samples. They then tested patient tumor plasma samples from Massachusetts General Hospital and other collaborating institutions, confirming the ddPCR assay could detect matching TERT mutations in both plasma and tumor samples.
The ddPCR assay detected TERT mutations in 62.5% of gliomas, demonstrating 10-fold higher sensitivity compared to previous methods for detecting TERT mutations in the blood of brain tumor patients.
Dr. Balaj noted that this blood test is convenient, rapid, and cost-effective, can be performed in most laboratories, and can be used to track disease progression."We will incorporate this test into the clinical care of brain tumor patients. For example, if an MRI scan reveals a suspicious mass, we can collect a blood sample before surgery and assess tumor characteristics present in the blood. During subsequent treatment, we can use these tumor characteristics as a baseline for monitoring to evaluate treatment effectiveness and detect any potential recurrence early," added Dr. Carter, Director of the Cancer Center and Director of Neurosurgery at Massachusetts General Hospital.
The Massachusetts General Hospital research team will further develop this blood test to distinguish between multiple types of brain tumors, advancing the diagnosis and treatment of these conditions.
About Massachusetts General Hospital
Founded in 1811, Massachusetts General Hospital is the original and largest teaching hospital of Harvard Medical School. We host the largest hospital-based research program in the United States and are the largest recipient of National Institutes of Health research funding, with research spanning 20 clinical departments and centers.Massachusetts General Hospital provides precise diagnosis and treatment across nearly every specialty and subspecialty, encompassing both internal medicine and surgery. Our six multidisciplinary care centers are globally renowned for innovations in cancer, digestive diseases, cardiology, hypertension, neurology, vascular medicine, and trauma care. Additionally, Massachusetts General Hospital for Children delivers comprehensive pediatric care, ranging from primary services to cutting-edge therapies for complex and rare conditions.Ranked #1 in the nation for research, MGH is the only hospital in the United States with all 16 specialties listed in the U.S. News & World Report rankings. Among nearly 5,000 evaluated hospitals, MGH has consistently held its place among the top-ranked institutions since the rankings began in 1990.