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Blood test for common genetic disorder may allow Patients to get ahead of tumors

The genetic disorder neurofibromatosis (NF1) often experience the growth of benign tumors growing along their vascular system. What is a benign tumor you may ask? A benign tumor is a non cancerous growth that remains stagnant in the one area of formation, not spreading to other portions of the body. In regards to this specific disease, these tumors do have a small chance of becoming cancerous, but there has been no way of determining which patients tumors may evolve versus those who wont. However, now, researchers at the National Cancer Institute’s (NCI) Center for Cancer Research believe that they have developed a possible method to detecting these cancerous tumors early in people afflicted with NF1. Additionally, this same blood test may be able to aid doctors in determining how effective a given treatment is in fighting cancer in a patient. Neurofibromatosis is the most common worldwide cancer predisposition syndrome, and is often diagnosed in early childhood. Roughly half of these patients with this disorder will experience the growth of benign tumors on their nerves, in a case called neurofibromas. In 15% of these patients (roughly 8% of the overall with NC1) these benign tumors form into cancerous ones, called a malignant peripheral nerve sheath tumor. These tumors foten grow rapidly and are resistant to both chemotherapy and radiation, so an early diagnosis on the tumor is crucial. Study Co-author Jack F. Shern, M.D., described the disorder as a sort of 'ticking time bomb' where the its vital to catch the cancer quickly. Not having a perfect tool/method to detect this shift, Dr. Shern and study co-leads Aadel A. Chaudhuri, M.D., Ph.D., and Angela C. Hirbe, M.D., Ph.D., of Washington University School of Medicine, and their collaborators collected blood samples from 23 people with plexiform neurofibromas, 14 patients with MPNST that had not yet been treated, and 16 healthy people without NF1. described the experiment in their article, saying, " The researchers isolated cell-free DNA—that is, DNA shed from cells into the blood—from the blood samples and used whole-genome sequencing technology to look for differences in the genetic material among the three groups. The cell-free DNA in patients with MPNST had several features that distinguished it from the DNA in the other two groups. For example, patients with MPNST had pieces of cell-free DNA that were shorter than those in people with plexiform neurofibromas or without NF1. In addition, the proportion of cell-free DNA that comes from tumors—called the “plasma tumor fraction”—in the blood samples was much higher in people with MPNST than in those with plexiform neurofibromas. Together, these differences allowed the researchers to differentiate, with 86% accuracy, between patients with plexiform neurofibromas and those with MPNST." This not only tells patients with greater accuracy what their diagnosis is, but allows for further steps in the field of cancerous diseases to be made with this information.

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