Primary Intracranial Mesenchymal Tumor with EWSR1-CREM Gene Fusion: A Case Report and Literature Review

Abstract

Background: The prevalence of gene translocation in some mesenchymal tumors can be used as highly specific molecular diagnostic markers in clinic and pathology. EWSR1 is a partner gene in a large, diverse range of mesenchymal tumors.

Case description: This paper describes the case of a 31-year-old man who was diagnosed with a primary intracranial mesenchymal tumor with EWSR1-CREM gene fusion and eventually returned to a normal live with no signs of tumor recurrence or metastasis after treatment, including surgery therapy, radiotherapy, and 6 cycles of vincristine-doxorubicin-cyclophosphamide chemotherapy, even though the classification and grade of the tumor are still controversial.

Conclusions: This case is a novel entity of intracranial mesenchymal neoplasm with EWSR1-CREM gene fusion which was confirmed by histopathology, molecular pathology, and next-generation sequencing (NGS). The literature review shows only 5 cases of intracranial tumor harboring EWSR1-CREM gene fusion with similar features. With the further application of molecular pathology and NGS in clinical practice, there will be more intracranial mesenchymal tumor cases with EWSR1-CREM gene fusion found in the future, which may lead to further understanding of the diagnosis and clinical features of this neoplasm.

Keywords: Case report; EWSR1-CREM gene fusion; Intracranial mesenchymal tumor; Next-generation sequencing.