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Pineal anlage tumor: a case report and the literature review



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.


A patient with pineal anlage tumor was reported, her clinical data and gene analysis results were recorded.


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.


Surgery combined radiotherapy and chemotherapy is still the best treatment currently,and genetic testing for patients is necessary.

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Data availability

The datasets are generated from the electronic database of the pediatric neurologic ward of Beijing Children’s Hospital.


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We thank Dr. Yun Peng and other medical colleagues at Beijing Children’s Hospital, Capital Medical University for the radiomic data and suggestions which they gave to us.

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Authors and Affiliations



Zesheng Ying was responsible for searching and analyzing of previous literature and writing of the draft of the manuscript; Yingjie Cai was responsible for the data collection; Nan Zhang was responsible for providing and analyzing the pathological data; Wei Yang and Ming Ge were responsible for review and editing.

Corresponding author

Correspondence to Ming Ge.

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This is a case report and literature review, and this study did not involve any human or animal. Approval for this study was obtained from the ethics committee of Beijing Children’s Hospital, Capital Medical University (Date.20220328/No.[2022]-E-074-R).

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Informed consent was taken from the parents.

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Ying, Z., Ge, M., Yang, W. et al. Pineal anlage tumor: a case report and the literature review. Childs Nerv Syst 39, 353–358 (2023).

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  • Pineal anlage tumor
  • Pineoblatoma
  • MAST1
  • DNA methylation profiling
  • Myogenic marker