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A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1
Jasia Mahdi1, Amish C Shah1, Aimee Sato1
1From the Departments of Neurology (J.M., S.M.M., D.H.G.) and Radiology (R.C.M.), Washington University School of Medicine, St. Louis, MO; Division of Oncology (A.C.S., M.J.F.), Children's Hospital of Philadelphia, PA; Center for Neuroscience of Behavioral Medicine (A.S., R.J.P.), Children's National Medical Center, Washington, DC; Division of Academic General Pediatrics (R.L.), Feinberg School of Medicine, Northwestern University, Ann & Robert H. Lurie Children's Hospital of Chicago, IL; and Department of Pediatrics (M.J.F.), The Perelman School of Medicine at The University of Pennsylvania, Philadelphia.
Objective:
To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1).
Methods:
We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed.
Results:
The average age at BSG diagnosis was 7.2 years, and tumors occurred most often in the midbrain and medulla (66%). The majority of children with NF1-BSGs were asymptomatic (54%) and were not treated (88%). Only 9 of the 72 asymptomatic children received treatment because of progressive tumor enlargement. In contrast, 61 children presented with clinical signs/symptoms attributable to their BSG; these individuals were older and more often had focal lesions. Thirty-one patients underwent treatment for their tumor, and 14 received CSF diversion only. Progression-free survival was ∼3 years shorter for children receiving tumor-directed therapy relative to those who had either no treatment or CSF diversion only. Overall survival was 85% for the tumor-directed therapy group, whereas no deaths were reported in the untreated or CSF diversion groups.
Conclusions:
Unlike children with sporadically occurring BSGs, most children with NF1-BSGs were asymptomatic, and few individuals died from complications of their tumor. Those requiring tumor-directed treatment tended to be older children with focal lesions, and had clinically more aggressive disease relative to those who were not treated or underwent CSF diversion only.
