School of Medicine

Brain tumors occur often in kids with common genetic syndrome

Stephanie Morris, MD, examines Henry Shrinivas, 1. Both Henry and his sister Sophie, 2, have been diagnosed with neurofibromatosis (NF1), a common genetic syndrome. A new study shows that children with NF1 are much more likely to have brain tumors than previously thought. (Photo: Matt Miller/Washington University)

Analysis of MRI scans identifies some unexplained bright objects as tumors

From the WashU Newsroom

The frequency of brain tumors has been underestimated in children with the common genetic syndrome neurofibromatosis type 1 (NF1), according to a new study. This disorder is characterized by birthmarks on the skin and benign nerve tumors that develop in or on the skin. Brain tumors also are known to occur in children and adults with NF1.

Neurologists have estimated that only 15 to 20 percent of kids with NF1 develop brain tumors. Of these brain tumors, the vast majority are located within the optic nerve or the brainstem. However, a recent study of brain scans performed on children with NF1 at Washington University School of Medicine in St. Louis found that the frequency of brain tumors in this population was more than three times higher. These previously under-recognized brain tumors can cause neurologic problems that require treatment.

The findings, available online in the journal Neurology: Clinical Practice, suggest that brain tumors may be a more significant problem for children with NF1 than previously appreciated.

“I’m not delivering the message anymore that brain tumors are rare in NF1,” said senior author David H. Gutmann, MD, PhD, the Donald O. Schnuck Family Professor of Neurology and director of the Washington University Neurofibromatosis Center. “This study has changed how I decide which children need more surveillance and when to let the neuro-oncologists know that we may have a problem.”

NF1 affects about one in every 3,000 people. It can affect almost any organ system, causing a wide variety of features, also including bone deformities, learning and attention deficits, autism, vision loss and cancer.

Brain MRI scans of children with NF1 characteristically show bright spots that are absent in the scans of unaffected children. Unlike tumors, they are generally thought to disappear in teenage years. Since brain tumors can be confused with harmless bright spots, it has never been clear whether finding these abnormalities via MRI should be a cause for concern.

  Read more at the Source.