A Blood Test Indicates When Benign Tumors Turn Malignant In A Common Genetic Disease

Scientists from the National Cancer Institute’s (NCI) Center for Cancer Research and Washington University School of Medicine in St. Louis have created a blood work that they think will one day provide a very accurate and low-cost way to identify cancer at an early stage in persons with NF1.

Doctors may be able to use the blood test to track well how individuals are reacting to treatment for cancer.

A Blood Test Indicates When Benign Tumors Turn Malignant In A Common Genetic Disease

Neurofibromatosis type 1, or NF1, is a genetic disorder that causes non-cancerous, or benign, tumors to develop on neurons. These tumors can occasionally evolve into severe malignancies, and there has not been a reliable technique to tell if this has occurred.

A Blood Test Indicates When Benign Tumors Turn Malignant In A Common Genetic Disease

The results were reported in the PLOS Medicine journal on August 31. According to experts associated with the cancer treatment, this test can be a game-changer in the case of many patients who are yet to confirm the disease.

It can help one get to the treatment before the disease spreads in the body and create more issues.

Such harmless tumors can evolve into aggressive cancer called a malign peripheral sheath tumor, or MPNST, in up to 15% of patients with plexiform polyneuropathy.

MPNST sufferers have a bad outlook since the malignancy can spread quickly and is generally resistant to chemo and radiotherapy. Eighty percent of persons identified with MPNST die in 5 years.

To detect if plexiform neurofibromas have changed into MPNST, doctors presently use imaging tests (MRI or PET scan) or biopsies. Unfortunately, since tumors develop along neurons, biopsy results aren’t usually correct, and the process can be exceedingly unpleasant for patients. Screening tests, on the other hand, are both costly and incorrect.

“What we don’t have right now is a tool to help us determine if within that big, bulky benign plexiform neurofibroma, something bad is cooking and it’s turning into an MPNST,” Dr. Shern said. “So we thought, ‘What if we developed a simple blood test where instead of a full-body MRI or a fancy PET scan, we could just draw a tube of blood and say whether or not the patient has an MPNST somewhere?'”

The blood tumor percentage was likewise related to how well MPNST patients reacted to therapy in the trial. In other terms, if their blood tumor proportion fell after therapy, their tumor size and number dropped as well. Metastatic relapse was linked to an elevation in blood tumor percentage.

“You can imagine treating a patient with a chemotherapy regimen. This blood test could easily and rapidly allow us to determine whether the disease is going down or maybe even going away entirely,” Dr. Shern said. “And if you had done surgery and taken out an MPNST, and the blood test was negative, you could use that to monitor the patient going forward to see if the tumor returns.”

Despite the fact it covered persons with NF1 from two prominent institutions, Dr. Shern pointed out that one disadvantage of the present study is its modest size. A bigger study with additional individuals is being planned by the scientists.

The immediate strategy’s goal, according to Dr. Shern, is to improve the blood test’s reliability from 86 percent to reach 100 percent. One strategy is to concentrate the genetic investigation on markers that have been linked to MPNST.

“This is the perfect opportunity to apply these technologies where we can use a simple blood test to screen an at-risk population,” said Dr. Shern. “If the test shows something abnormal, that’s when we know to act and go looking for a tumor.”

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