T2 Hyperintensities in Children with Neurofibromatosis Type 1

Areas of increased signal intensity, known as T2 hyperintensities (T2Hs), observed on T2-weighted magnetic resonance imaging (MRI) scans, are linked to a spectrum of brain abnormalities in children with neurofibromatosis type 1 (NF1). Defining the radiological characteristics that distinguish non-neoplastic from neoplastic T2Hs in children with NF1 is crucial. Then, we could identify lesions that were most likely to require oncologic surveillance.

We conducted a single-center retrospective review of all available brain MRIs from 98 children with NF1 and 50 healthy pediatric controls. All T2Hs identified on MRI were characterized based on location, imaging features, and the presence of lesion-related symptoms. Subsequently, all T2Hs were classified using newly established criteria and categorized into 3 distinct groups: low-risk tumor lesions, medium-risk tumor lesions, and high-risk tumor lesions. Lesions deemed to be high-risk will be recommended for surgical treatment.

T2Hs were present in 61 (62.2%) individuals of the NF1 cohort. T2Hs were a highly sensitive (100%; 95% confidence interval 92.9%-100.0%) and specific (62.2%; 95% confidence interval 51.9%-71.8%) marker for the diagnosis of NF1. In children aged 4-10, the detection rate of T2Hs is significantly higher than in children under 4 years old and those aged between 10 and 18 (P < 0.05). T2Hs were most frequently located in basal ganglia, cerebellar hemispheres, and brainstem. During the follow-up process, none of the lesions categorized as low-risk or medium-risk tumor lesions progressed to high-risk tumor lesions. Seven patients had high-risk tumor lesions and underwent surgical treatment. The pathological assessment identified 5 cases of glioma among the 7 patients, along with 1 case of gliosis and 1 case of vascular dysplasia.

Low-risk and medium-risk tumor lesions can both be classified as unidentified bright objects . Unidentified bright objects constituted the majority of T2Hs in children with NF1. High-risk tumor lesions should be considered as probable tumors. With the application of standardized radiologic criteria, a high prevalence of probable brain tumors will be identified in this at-risk population of children, which underscores the importance of vigilant and appropriate oncological surveillance to ensure timely detection and intervention for these tumors.