Brain tumors occur often in kids with common genetic syndrome

August 9, 2018 by Tamara Bhandari, Washington University School of Medicine in St. Louis
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. Credit: Matt Miller/Washington University

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 . Of these brain tumors, the vast majority are located within the optic nerve or the brainstem. However, a recent study of 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, Ph.D., 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.

Brain MRI scans of children with NF1 often show bright spots, and it has been difficult for doctors to distinguish bright spots that indicate a tumor (left scan) from those that are probably harmless (right scan). Credit: David Gutmann

Robert C. McKinstry, MD, Ph.D., the William R. Orthwein Jr. and Laura Rand Orthwein Professor of Radiology and Pediatrics, and Manu Goyal, MD, an assistant professor of radiology, developed a set of criteria to distinguish tumors from other bright spots, using features such as the location and shape of the bright spot, the sharpness of its border and whether the brain tissue surrounding the bright spot appears displaced or compressed.

Using these criteria, co-first authors Jennifer Griffith, MD, Ph.D., and Stephanie Morris, MD, assistant professors of neurology and of pediatrics, and colleagues studied brain scans from children with NF1 performed at the School of Medicine from 2006 through 2016. They analyzed scans from 68 NF1 patients as well as 46 children without NF1 for comparison. Most of the children had undergone multiple scans, so the researchers examined a total of 190 brain scans from NF1 patients and 104 scans from children without NF1.

All but four (94 percent) of the children with NF1 had bright spots, and none of the children without NF1 did. Further, in 57 percent of the children with bright spots, at least one of the spots was deemed likely to be a tumor.

It is difficult to prove that the researchers correctly distinguished tumors from less worrisome bright spots. Doing so would require extracting bits of the bright spots for examination, which would not be practical. However, 10 of the children whose bright spots were classified as probable tumors underwent brain biopsies as part of their medical care, and all 10 were proven to be brain tumors. Furthermore, 28 percent of these probable tumors eventually required treatment, providing further evidence that they had been correctly classified. The remainder did not cause symptoms and did not require treatment.

Applying the new criteria to MRI scans will help physicians identify probable tumors, but that does not mean that all children with NF1 should be scanned regularly, the researchers cautioned.

"I am not advocating the frequent use of MRI scans in kids with NF1," Gutmann said. "What we have learned from this study is how to more accurately interpret MRI scans in with NF1, and to better decide which abnormalities are most likely tumors in need of medical surveillance."

Explore further: CT scans may increase the risk of brain cancer

More information: Increased prevalence of brain tumors classified as T2 hyperintensities in neurofibromatosis 1. Neurology: Clinical Practice. DOI: doi.org/10.1212/CPJ.0000000000000494

Related Stories

CT scans may increase the risk of brain cancer

July 18, 2018
A new study in the Journal of the National Cancer Institute suggests that CT scans, commonly used in medical imaging, may increase the risk of brain tumors.

Gadolinium deposition in the brain not dose dependent

May 11, 2018
Investigators at Children's Hospital Los Angeles have determined that in children receiving gadolinium as a contrast agent to enhance MRI examinations, signal changes attributed solely to deposition of this material in the ...

First drug target identified for children with rare type of brain tumor

July 13, 2016
Primitive neuroectodermal tumors (PNETs) are the largest group of malignant brain tumors in children. They can arise from the brain's cerebellum or, more rarely, from tissue located throughout the central nervous system (CNS). ...

Promising target for treating brain tumors in children

November 28, 2017
Findings published in Oncotarget offer new hope for children with highly aggressive brain tumors like atypical teratoid/rhabdoid tumor (AT/RT) and medulloblastoma. Previously, the authors of the study have shown that an experimental ...

Multiple sclerosis risk in children spotted with MRI brain scans

October 11, 2017
By the time multiple sclerosis (MS) is diagnosed in children, it may be difficult to prevent the disabilities and relapses that come with the disease. In a new Yale School of Medicine study, researchers examined MRI brain ...

Removing all visible cancer is key to treating aggressive brain tumors

September 15, 2015
(HealthDay)—Surgery that removes all visible cancer significantly improves the chances of survival for children with aggressive brain tumors, especially girls.

Recommended for you

Perinatal hypoxia associated with long-term cerebellar learning deficits and Purkinje cell misfiring

August 18, 2018
Oxygen deprivation associated with preterm birth leaves telltale signs on the brains of newborns in the form of alterations to cerebellar white matter at the cellular and the physiological levels. Now, an experimental model ...

People are more honest when using a foreign tongue, research finds

August 17, 2018
New UChicago-led research suggests that someone who speaks in a foreign language is probably more credible than the average native speaker.

Critical role of DHA on foetal brain development revealed

August 17, 2018
Duke-NUS researchers have found evidence that a natural form of Docosahexaenoic Acid (DHA) made by the liver called Lyso-Phosphatidyl-Choline (LPC-DHA), is critical for normal foetal and infant brain development, and that ...

Scientists discover new method of diagnosing cancer with malaria protein

August 17, 2018
In a spectacular new study, researchers from the University of Copenhagen have discovered a method of diagnosing a broad range of cancers at their early stages by utilising a particular malaria protein that sticks to cancer ...

Researchers find pathways that uncover insight into development of lung cancer

August 17, 2018
Lung cancer is the leading cause of preventable cancer death. A disease of complex origin, lung cancer is usually considered to result from effects of smoking and from multiple genetic variants. One of these genetic components, ...

Automated detection of focal epileptic seizures in a sentinel area of the human brain

August 17, 2018
Patients with focal epilepsy that does not respond to medications badly need alternative treatments.

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.