Cervical myelopathy and extensive body destruction caused by primary Gli1 fusion sarcoma.

Abstract

Sarcomas of the cervical spine with osteolytic lesions and intradural extension are extremely uncommon. This is a case report of a woman in her late 30s who had experienced numbness and gradual weakness of her four limbs. MRI with enhanced T1-weighted contrast showed a heterogeneously enhancing intradural extramedullary mass lesion over C2-C4 levels compressing the spinal cord. Over the corresponding levels, the computed tomography scan showed an osteolytic lesion. Surgical intervention was performed under intraoperative neuromonitoring. Histopathological findings demonstrated a low-grade tumor with round to ovoid nuclei with a moderate amount of eosinophilic cytoplasm with minimal nuclear pleomorphism. Next-generation sequencing technology was employed and findings revealed PTCH1::GLI1 and GLI1::KDM2B fusion with strongly positive findings on GLI1 immunohistochemical staining. The final diagnosis was GLI1 fusion sarcoma. The patient recovered well under multidisciplinary treatment with stringent follow-up, which are required for this rare disease entity.