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

Abstract

Background and Purpose: 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. Methods: 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. Results: 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.Conclusions: 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.

Neoadjuvant Chemotherapy with Laser Interstitial Thermal Therapy in Central Nervous System Neuroblastoma: Illustrative Case and Literature Review

“…Since then, clinical data of this rare tumor subtype is limited to relatively small series, the largest being a cohort of 63 patients reported in von Hoff et al [4]. Median age at diagnosis for patients with CNS NB-FOXR2 is 5 years old, with the vast majority of cases presenting between age 2 and 6 across all reported studies [4,6,12]. There is a slightly higher number of females compared to males (36 vs. 27).…”

“…A minority of cases (10/63) had intracranial or spinal metastases [4]. Imaging characteristics [12,13] of these tumors often involve the deep white matter and cortex of one or multiple frontal/parietal/temporal lobes, as well as the basal ganglia (68% involving frontal lobe, 40% parietal, 40% temporal, 15% occipital; 40% basal ganglia, 15% thalamus; 85% involving cortex, 97% involving deep white matter). Masses tended to be large, with non-solid components, multilobulated, intermediately enhancing, and with little surrounding edema [13].…”