Imaging and pathology correlation in schwannomatosis: insights from a case series

Schwannomatosis is a rare tumor syndrome characterized by multiple peripheral schwannomas. The correlation between imaging features and pathological subtypes remains underexplored. This study aims to analyze the imaging and pathological characteristics of schwannomatosis and explore their relationship. We retrospectively reviewed 12 patients with pathologically confirmed schwannomatosis who were treated at our institution between 2000 and 2019. Clinical presentation, ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI) findings were analyzed and compared with histopathological and immunohistochemical results. The median age at diagnosis was 39 years (range, 22–56). Lesions typically appeared as well-defined hypoechoic masses on US, hypodense or isodense on CT with mild to moderate enhancement, and iso- to hypointense on T1-weighted images (T1WI) and hyperintense on T2-weighted images (T2WI) MRI scans. Histopathology revealed varying proportions of Antoni A and Antoni B areas, allowing classification into four pathological subtypes. Immunohistochemistry showed diffuse positivity for S-100 protein. Imaging features correlated with pathological composition, such as cystic changes in Antoni B–dominant lesions. Imaging features of schwannomatosis exhibit characteristic patterns that reflect underlying pathological subtypes, which can aid in lesion localization and characterization. However, a definitive diagnosis requires pathological confirmation, immunohistochemistry, and, when possible, genetic testing. Larger, multicenter studies are needed to validate these findings.