학술논문
An atypical location of pineoblastoma RB1 subgroup without pineal or retinal tumor.
Document Type
Case Study
Author
Source
Subject
*DNA methylation
*DNA analysis
*TUMORS
*DIAGNOSTIC imaging
*RHINORRHEA
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Language
ISSN
0256-7040
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. [ABSTRACT FROM AUTHOR]