Multinodular and vacuolating neuronal
tumors (MVNT) have been recently referred to as a distinctive neuronal
tumor entity based on histopathological findings. They are characterized by multiple
tumor nodules, vacuolar alteration and widespread immunolabeling for human neuronal
protein HuC/HuD. Only 13 cases have been reported in the literature to date and little is known about the histopathology of these
tumors. Herein, we report a case of MVNT with additional confirmation of immunohistochemical features. A 22-year-old woman presented with a continuous
headache. MRI showed a subcortical white matter lesion with multiple satellite nodules in the frontal lobe appearing as T2/fluid-attenuated inversion recovery (FLAIR) hyperintensities. Histological examination of the resected lesion revealed well-defined multiple nodules composed of predominant vacuolating
tumor cells. The
tumor cells exhibited consistent immunolabeling for doublecortin, as well as HuC/HuD, both representative neuronal
biomarkers associated with earlier stages of neuronal development. Immunopositivity for
oligodendrocyte transcription factor 2 (Olig2) and S100 was also detected in
tumor cells. Additionally, significant overexpression of
alpha-internexin was observed in the background neuropil limited to
tumor nodules. Neuronal
nuclear antigen (NeuN),
synaptophysin and neurofilament, markers for mature neurons, were either negative or weakly positive. The expression profile of neuronal
biomarkers can be distinguished from that of classic neuronal
tumors and is the immunohistochemical hallmark of MVNT. In summary, we identified the characteristic tumoral expression of HuC/HuD and doublecortin and the presence of abundant neuropil localized in MVNT
tumor nodules, which exhibited widespread
alpha-internexin expression. These results supported the presumption that MVNT is a distinct histopathological entity.