A multi-institutional study of brainstem gliomas in children with neurofibromatosis type 1

• Published in: Neurology Vol. 88; no. 16; p. 1584
• Main Authors: Mahdi, Jasia, Shah, Amish C, Sato, Aimee, Morris, Stephanie M, McKinstry, Robert C, Listernick, Robert, Packer, Roger J, Fisher, Michael J, Gutmann, David H
• Format: Journal Article
• Language: English
• Published: United States 18.04.2017
• Subjects: Adolescent; Age Factors; Brain Stem - diagnostic imaging; Brain Stem Neoplasms - diagnostic imaging; Brain Stem Neoplasms - epidemiology; Brain Stem Neoplasms - therapy; Child; Child, Preschool; Cross-Sectional Studies; Disease Progression; Disease-Free Survival; Female; Glioma - diagnostic imaging; Glioma - epidemiology; Glioma - therapy; Humans; Infant; Male; Neurofibromatosis 1 - diagnostic imaging; Neurofibromatosis 1 - epidemiology; Neurofibromatosis 1 - therapy; Retrospective Studies; Young Adult
• ISSN: 1526-632X
• DOI: 10.1212/WNL.0000000000003881

To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1). 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. 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. 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.