Division of Haematology-Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Riad El Solh, P.O. Box: 11-0236, Beirut, 1107 2020, Lebanon.
Division of Neurosurgery, Department of Surgery, American University of Beirut Medical Centre, Beirut, Lebanon.
J Med Case Rep. 2024 Mar 23;18(1):178. doi: 10.1186/s13256-024-04471-w.
Primary brain rhabdomyosarcoma is a rare primary brain malignancy with few case reports. The vast majority of cases of primary brain rhabdomyosarcoma occur in pediatric patients, and immunohistochemistry can distinguish it from embryonal subtypes; however, few cases of primary brain rhabdomyosarcoma in adults have been reported in the literature.
We report the case of a 26-year-old White male patient who was found to have primary brain alveolar rhabdomyosarcoma after developing headaches for several months. A brain MRI revealed a mixed cystic and solid tumor along the vermis of the cerebellum. The patient underwent a gross total surgical resection, which confirmed the diagnosis of alveolar rhabdomyosarcoma. Further staging workup for another primary focus or disseminated disease yielded negative results, confirming the diagnosis of primary alveolar rhabdomyosarcoma of the brain.
The standard of care for managing this rare type of brain tumor involves surgery with adjuvant chemoradiotherapy. Further studies should be conducted for a better diagnostic and therapeutic understanding.
原发性脑横纹肌肉瘤是一种罕见的原发性脑恶性肿瘤,仅有少数病例报告。绝大多数原发性脑横纹肌肉瘤发生在儿科患者中,免疫组织化学可将其与胚胎亚型区分开来;然而,文献中报道的成人原发性脑横纹肌肉瘤病例较少。
我们报告了一例 26 岁白人男性患者,该患者因头痛数月后被诊断为原发性脑肺泡横纹肌肉瘤。脑部 MRI 显示小脑蚓部混合囊性和实性肿瘤。患者接受了大体全切除手术,该手术证实了肺泡横纹肌肉瘤的诊断。进一步的其他原发性病灶或播散性疾病的分期检查结果为阴性,证实了脑原发性肺泡横纹肌肉瘤的诊断。
管理这种罕见类型脑肿瘤的标准治疗方法包括手术联合辅助放化疗。应开展进一步的研究以更好地了解诊断和治疗。