In a common genetic disease, blood tests can show when a benign tumor becomes cancerous

People with a genetic disease of neurofibromatosis type 1 (NF1) usually develop into a non-cancerous or benign tumor that grows along the nerve

Researchers developed a blood test from part of the National Cancer Institute (NCI) Cancer Research Center (National Institutes of Health) and the Washington University School of Medicine in St.

The results of the study were published in the August 31 issue of "PLoS Medicine"

NF1 is the most common cancer susceptibility syndrome, affecting 1 in every 3000 people worldwide

In 15% of patients with plexiform neurofibromas, these benign tumors will turn into aggressive cancers of malignant peripheral nerve sheath tumors (MPNST)

"Imagine a lifetime with a cancer susceptibility syndrome like NF1

Doctors currently use imaging scans (MRI or PET scans) or biopsy to determine whether plexiform neurofibroma has transformed into MPNST

"We currently don't have a tool to help us determine whether something bad is brewing in this huge, bulky benign plexiform neurofibroma, and it is becoming an MPNST," Dr.

Hirbe, MD, of the University of Washington School of Medicine and his collaborators collected blood samples from 23 patients with plexiform neurofibroma, 14 patients with MPNST who had not received treatment, and 16 healthy people who had not received NF1 treatment

The cell-free DNA of patients with MPNST has several characteristics that make it different from the DNA of the other two groups

Among MPNST study participants, plasma tumor scores were also consistent with their response to treatment

"You can imagine treating patients with chemotherapy regimens

Dr.

Dr.

This type of blood test can also be used for early detection and monitoring of patients suffering from other cancer-susceptible genetic diseases, such as multiple endocrine tumors, benign tumors can turn into cancer, or Lee-Fraumeni syndrome, which increases the prevalence.

Dr.