Adult Primary Pineal Alveolar Rhabdomyosarcoma with FOXO1 Gene Rearrangement and OLIG2 Expression: A Rare Case Report and Literature Review

Alveolar rhabdomyosarcoma is a common malignant soft tissue tumor in child and adolescents. Intracranial alveolar rhabdomyosarcoma in adults is rare, especially in the pineal region. We present a case of primary alveolar rhabdomyosarcoma of the pineal gland in a 36-year-old Chinese male with a chief complaint of dizziness, headache and a loss of balance when walking. Imaging identified a space-occupying mass in the pineal region with obstructive hydrocephalus. An endoscopic-assisted pineal mass resection was performed. Pathology revealed a solid, sheet-like growth of medium-sized, round or oval cells with map-like necrosis and some rhabdomyoblasts. The tumor cells were diffusely positive for desmin, myogenin, MyoD1, ALK, and OLIG2. Fluorescence in situ hybridization (FISH) detected FOXO1 gene rearrangement. This rare case is presented to expand the knowledge of pineal gland tumors and alert us to pay attention to the differential diagnosis of OLIG2-positive round-cell tumors of the central nervous system.

Automated summary

This article presents a rare case of central nervous system alveolar rhabdomyosarcoma located in the pineal gland of a 36-year-old Chinese male. It expands our knowledge of pineal gland tumors and highlights the importance of considering OLIG2-positive round-cell tumors in the differential diagnosis.