Primary pineal alveolar rhabdomyosarcoma in an adult patient: a case report and literature review

Abstract Background The rarity of adult primary cerebral rhabdomyosarcoma (PCRMS) cases has necessitated the adoption of pediatric rhabdomyosarcoma (RMS) therapeutic protocols, highlighting a critical need for broadening treatment experiences to enhance prognoses. Case presentation A brain MRI revealed a mass in the pineal region, extending into the third ventricle, measuring approximately 2.5 x 2.0 x 3.0 cm. The mass showed mild irregular lobulation and heterogeneous enhancement. Intraoperatively, it exhibited characteristics similar to high-grade gliomas, including a grayish appearance, abundant blood supply, firm texture, and indistinct margins adjacent to the bilateral thalamus. The diagnosis confirmed alveolar type PCRMS with FOXO1 gene rearrangement. Despite receiving comprehensive treatment, the patient unfortunately succumbed to the illness eight months after her initial PCRMS diagnosis. Conclusions PCRMS in the pineal region, a distinct subtype of RMS, is exceptionally rare and typically associated with a bleak prognosis, suggesting unique tumor characteristics. A multidisciplinary and aggressive treatment approach is crucial. Further research into the molecular makeup of PCRMS in adults may pave the way for more effective, tailored treatments for this aggressive disease.