Purpose or Case Report: A 14 year old female without relevant past medical history presented to the ED with progressive difficulty walking, urinating and upper back pain. Physical exam demonstrated lack of proprioception within the right great toe, partial proprioception in the left great toe as well as diminished pain sensation throughout the left greater than right lower extremity. Additionally, there was prolonged clonus of the right ankle and absent clonus of the left ankle.
Methods & Materials: MRI of the spine demonstrated an enhancing intramedullary mass at the level of C6-T6 with peritumoral cystic change, surrounding vasogenic cord edema, internal hemorrhage and areas of diffusion restriction. Noted differential considerations included pilocytic astrocytoma and ependymoma. MRI of the brain was negative. Surgical resection was adivsed.
Results: Initial surgical pathology analysis demonstrated a high cellularity tumor with focal perivascular and papillary growth. However, immunohistochemical pattern and morphology was felt to potentially reflect multiple entities. Fusion analysis revealed EWSR1:BEND2 fusion most closely resembling astroblastoma with MN1 alteration. However, there was enough epigenetic variability to be possibly distinct. Final pathology was determined as High-grade astroblastoma-like neuroepithelial tumor with EWSR1:BEND2 fusion, not elsewhere classified. Short term follow up MRI demonstrated early recurrence.
Conclusions: Astroblastoma and related tumors are a rare and controversial entity as the clinical significance between astroblastoma and astroblastoma-like tumors remains to be defined. We present a case of a rare high-grade astroblastoma-like neuroepithelial tumor with EWSR1:BEND2 fusion, not elsewhere classified localized to the spinal cord demonstrating early tumor recurrence. This designation reflects the current uncertainty of whether these tumors are subtypes of astroblastoma or a distinct entity. This question is further highlighted by the location of tumor in the current case being confined to the spinal cord when astroblastoma has a known strong supratentorial predilection. Diagnosis by imaging is limited as imaging features can closely mimic more common cord pathologies such as astrocytoma and ependymoma. Although imaging features such as enhancement and diffusion restriction may point to a more high grade pathology. As such, differentiating between these entities relies on advances in genetics and pathology which may help with clinical decision making regarding treatment options.