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An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor.
- Source :
-
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery [Childs Nerv Syst] 2024 Mar; Vol. 40 (3), pp. 961-964. Date of Electronic Publication: 2023 Nov 02. - Publication Year :
- 2024
-
Abstract
- Purpose: To describe the clinical and imaging features of a sellar-suprasellar pineoblastoma RB1 subgroup without pineal or retinal involvement.<br />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.<br />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.<br /> (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Subjects :
- Female
Humans
Infant
Retinoblastoma Binding Proteins
Ubiquitin-Protein Ligases
Brain Neoplasms diagnostic imaging
Brain Neoplasms genetics
Central Nervous System Neoplasms pathology
Pineal Gland diagnostic imaging
Pinealoma diagnostic imaging
Pinealoma genetics
Retinal Neoplasms diagnostic imaging
Retinal Neoplasms pathology
Subjects
Details
- Language :
- English
- ISSN :
- 1433-0350
- Volume :
- 40
- Issue :
- 3
- Database :
- MEDLINE
- Journal :
- Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
- Publication Type :
- Academic Journal
- Accession number :
- 37917406
- Full Text :
- https://doi.org/10.1007/s00381-023-06201-x