Adult Primary Pineal Alveolar Rhabdomyosarcoma With FOXO1 Gene Rearrangement and OLIG2 Expression: a Case Report and the Literature Review

Introduction: Alveolar rhabdomyosarcoma (ARMS) is a common malignant soft tissue tumor in child and adolescents. When diagnosed in adults, it is an aggressive, often fatal disease. Intracranial ARMS in adults is rare, especially in the pineal region. Case presentation: A 36-year-old Chinese man presented with a 3-month history of dizziness and 1-month history of headache and unsteady walking. Magnetic resonance imaging of the brain revealed a pineal region lesion with obstructive hydrocephalus. He received ventricular-abdominal shunt and endoscopic-assisted pineal lesion resection.The tumor appears as a solid sheet-like growth of medium-sized round or oval cells with map-like necrosis and some rhabdomyoblasts. Immunohistochemical test revealed that tumor cells were diffusely positive for desmin, myogenin, MyoD1, ALK and CD56. Notably, the tumors were diffusely positive for OLIG2. Fluorescence in situ hybridization confirmed the FOXO-1 gene rearrangement. The final diagnosis of the present case is ARMS of the pineal gland. Conclusions: We presented an extremely rare case of primary ARMS in adult pineal region particularly with expression of OLIG2 and confirmed by PAX3/7-FOXO1 fusion gene detection.

Pineal Region Meningioma in a Very Young Child

Introduction: Meningiomas in childhood are infrequently seen. Furthermore, they are extremely rare at a pineal location with few reported cases above 5-years of age. We present a very young child with a large pineal region meningioma which mimicked the usually occurring pathologies at this site. Case Presentation: A 2.5-year-old child presented with symptoms of raised intracranial pressure. MRI demonstrated a homogenously enhancing pineal lesion with small cystic areas. After an initial cerebrospinal fluid evaluation for germ cell tumors, the child underwent excision of the lesion by the Krause approach. The tumor showed no definitive dural attachment, had well-defined arachnoid interface, and was completely excised. The final histopathology was meningioma. Conclusion: Although unusual, we highlight the importance of considering meningiomas among the childhood pineal region lesions, given their good outcome with total resection. Also, pertinent brief literature of the pediatric pineal region meningiomas has been provided. An assessment of preoperative and intraoperative features (clear arachnoid plane) along with adjuncts such as frozen studies can help discern various entities of this region, and decide the extent of excision.

Intramedullary recurrence of germinoma in the spinal cord 15 years after complete remission of a pineal lesion

The authors present a case of germinoma that was initially found in the pineal region and recurred 15 years later in the intramedullary cervical spinal cord after intensive chemo- and radiotherapy and diagnosis of complete remission. This 28-year-old man initially presented with seizures. Hydrocephalus and a pineal tumor were found on radiological examination, and partial resection of the tumor was performed. Histological diagnosis showed a pure germinoma. Following surgery, the patient received a combination of chemo- and radiotherapy, and a complete remission was shown. However, after 15 years of follow-up, he presented with gait disturbances. Spinal MRI showed an intramedullary mass lesion in the cervical spinal cord. The cervical lesion was biopsied, and histological examination again revealed a pure germinoma. With germinomas, the possibility of a drop metastasis from an intracranial lesion to the spinal cord must be considered during follow-up. However, in the present case, analysis of a CSF sample showed no abnormalities as in previously published cases. In recent years, multidisciplinary treatments have demonstrated good event-free survival rates in cases of pure germinomas, but long-term outcomes over the decades are not fully known. Continual follow-up of such cases is recommended even after complete remission has been achieved.