In a Common Genetic Disorder (NF1), Blood Test May Reveal When Benign Tumors Turn Cancerous; 86% Accuracy Achieved in First Small Study

People with an inherited condition known as neurofibromatosis type 1 (NF1), often develop non-cancerous, or benign, tumors that grow along nerves. These tumors can sometimes turn into aggressive cancers, but there hasn’t been a good way to determine whether this transformation to cancer has happened. Researchers from the National Cancer Institute’s (NCI) Center for Cancer Research, part of the National Institutes of Health, and Washington University School of Medicine in St. Louis have developed a blood test that, they believe, could one day offer a highly sensitive and inexpensive approach to detect cancer early in people with NF1. The blood test could also help doctors monitor how well patients are responding to treatment for their cancer. The new findings were published online on August 31, 2021 in PLOS Medicine. The open-access article is titled “Cell-Free DNA Ultra-Low-Pass Whole Genome Sequencing to Distinguish Malignant Peripheral Nerve Sheath Tumor (MPNST) from Its Benign Precursor Lesion: A Cross-Sectional Study.”

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