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Digital PCR technology detects brain-tumor-associated mutation in cerebrospinal fluid
Date:7/23/2013

ecules, dramatically improving the ability to identify tumor-specific changes without the need for biopsy."

The current study used two forms of digital PCR BEAMing and Droplet Digital PCR to analyze extracellular vesicles in the blood and CSF of brain tumor patients and healthy controls for the presence of a single-nucleotide IDH1 mutation known to be associated with several types of cancer. Both forms of PCR were able to detect both the presence and abundance of mutant IDH1 in the CSF of 5 of the 8 patients known to have IDH1-mutant tumors. Two of the three mutation-positive tumors that had false negative results were low grade and the third was quite small, suggesting a need for future studies of more samples to determine how the grade and size of the tumors affect the ability to detect mutations. The failure to detect tumor-associated mutations in blood samples with this technology may indicate that CSF is a better source for extracellular vesicles from brain tumors.

The ability to noninvasively determine the genetic makeup of brain tumors could have a significant effect on patient care, explains study co-author Fred Hochberg, MD, MGH Neurology. "The current approach for patients who may have a brain tumor is first to have a brain scan and then a biopsy to determine whether a growth is malignant. Patients may have a second operation to remove the tumor prior to beginning radiation therapy and chemotherapy, but none of these treatments are targeted to the specific molecular nature of the tumor.

"Having this sort of molecular diagnostic assay whether in spinal fluid or blood would allow us to immediately initiate treatment that is personalized for that patient without the need for surgical biopsy," he adds. "For some patients, the treatment could shrink a tumor before surgical removal, for others it may control tumor growth to the point that surgery is not necessary, which in addition to keeping patients from undergoing an u
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Contact: Sue McGreevey
smcgreevey@partners.org
617-724-2764
Massachusetts General Hospital
Source:Eurekalert

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