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An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor

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Abstract

Purpose

To describe the clinical and imaging features of a sellar-suprasellar pineoblastoma RB1 subgroup without pineal or retinal involvement.

Case Report

An 11-month-old girl presented to the emergency department with fever, rhinorrhea, vomiting, altered level of consciousness, and one seizure. Head CT and brain MRI demonstrated a large lobulated mass with calcifications and heterogeneous enhancement in the suprasellar region causing mass effect to the ventricular system and hydrocephalus. Histology revealed a CNS embryonal tumor not otherwise specified (NOS) with small round nuclei with mitotic activity and necrosis. DNA methylation analysis classified the tumor in the pineoblastoma RB1 subgroup.

Conclusion

Pineoblastoma RB1 subgroup should be considered in the differential diagnosis of large sellar-suprasellar masses with calcifications and heterogeneous enhancement in children younger than 18 months even in cases of absent pineal or retinal involvement. Molecular analysis with DNA methylation profiling is critical for diagnosis and management.

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Data availability

The authors included all data generated or analyzed during this study in this published article.

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Authors and Affiliations

  1. Diagnostic Neuroradiology Unit, Department of Radiology, Fundación Santa Fe de Bogotá, Carrera 7 #117-15 (110111), Bogotá, Colombia

    Angela Guarnizo

  2. Diagnostic Neuroradiology Unit, Department of Radiology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Combate de los Pozos 1881 (C 1245 AAM), Buenos Aires, Argentina

    Francisco Maldonado & Carlos Rugilo

  3. Department of Neuro-oncology, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Combate de los Pozos 1881 (C 1245 AAM), Buenos Aires, Argentina

    Lorena Baroni & Nicolás Fernández-Ponce

Authors
  1. Angela Guarnizo
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  2. Francisco Maldonado
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  3. Lorena Baroni
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  4. Nicolás Fernández-Ponce
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  5. Carlos Rugilo
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Contributions

All authors contributed to the study conception and design. Material preparation, data collection and analysis were performed by Angela Patricia Guarnizo Capera, Francisco Maldonado, Lorena Baroni, Nicolas Ponce Fernández, and Carlos Rugilo. The first draft of the manuscript was written by Angela Patricia Guarnizo Capera and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Angela Guarnizo.

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Ethics approval

Ethical approval was waived by the local Ethics Committee of “Hospital de Pediatría Prof. Dr. Juan P. Garrahan” in view of the retrospective nature of the study and all the procedures being performed were part of the routine care.

Informed consent

The article does not contain photographs or indication that could be traced back to a human participant. The patient’s mother gave a written informed consent for all testing during the clinical process.

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The authors have no relevant financial or non-financial interests to disclose.

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Guarnizo, A., Maldonado, F., Baroni, L. et al. An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor. Childs Nerv Syst 40, 961–964 (2024). https://doi.org/10.1007/s00381-023-06201-x

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  • DOI: https://doi.org/10.1007/s00381-023-06201-x

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