Neuroimaging features of FOXR2-activated CNS neuroblastoma: A case series and systematic review

CNS neuroblastoma, FOXR2-activated (CNS NB-FOXR2) is a newly recognized tumor type in the 2021 World Health Organization classification of central nervous system (CNS) tumors. We aimed to investigate the clinical and neuroimaging findings of CNS NB-FOXR2 and systematically review previous publications and three new cases.

We searched PubMed, SCOPUS, and Embase databases for patients with pathologically proven CNS NB-FOXR2 with sufficient information for preoperative CT and MRI findings. Two board-certified radiologists reviewed the studies and imaging data.

Thirty-one patients from six previous publications and 3 patients from our hospital comprised the study population (median age, 4.2 [range: 1.4-16] years; 19 girls). Clinically, CNS NB-FOXR2 mainly affected children between 2 and 6 years (24/34, 67.6%). Nausea/vomiting and seizures were reported as the main presenting symptoms (100% in total). The tumors frequently showed hyperdensity compared to the cortex on nonenhanced CT (4/5, 80%) with calcification along the inner rim of the tumor (4/5, 80%). More than half of patients showed susceptibility artifacts indicating intratumoral hemorrhage and/or calcification (15/28, 53.6%) on T2*- and/or susceptibility-weighted imaging. Elevated relative cerebral blood volume and flow and percentile signal recovery were observed in one case with dynamic susceptibility contrast MRI.

Characteristic imaging features including hyperdense attenuation of the solid components and calcification along the inner rim on CT and susceptibility-weighted imaging may assist with preoperative diagnosis of CNS NB-FOXR2 in pediatric patients.