Purpose: Pineal anlage tumor is an extremely rare tumor which was considered as a subtype of pineovlatoma with an overall poor prognosis. This case-based review further summarize the clinical profile.
Methods: A patient with pineal anlage tumor was reported, her clinical data and gene analysis results were recorded.
Results: An 8-month-old girl, with an obvious enhancing pineal occupancy and obstructive hydrocephalus. Her histological and immunohistochemical findings contained rhabdomyoblastic, melanin pigment and cartilage island. The wholeexpme sequencing and genome-wide copy number variation sequencing were performed, no mutations associated with pineoblatoma as well as copy number variants were identified. In terms of treatment, our patient underwent subtotal resection without radiotherapy or chemotherapy, and the residual tumor enlarged 4 months after surgery. We have followed her up for 10 months, and the child is still alive.
Conclusion: Surgery combined radiotherapy and chemotherapy is still the best treatment currently,and genetic testing for patients is necessary.
Keywords: DNA methylation profiling; MAST1; Myogenic marker; Pineal anlage tumor; Pineoblatoma.
© 2022. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.