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Embryonal tumor with multilayered rosettes: a report of a rare case
Sultan A Alshoabi1, Ali M Abdu2, Hisham M Alkhalidi3
1College of Applied Medical Sciences, Taibah University, , KSA, Almadinah, Kingdom of Saudi Arabia.
BJR Case Reports
|December 1, 2022
Summary
This case report details an embryonal tumor with multilayered rosettes (ETMR), a rare aggressive brain tumor in infants. Documenting this case adds valuable data on ETMR diagnosis and characteristics.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Genetics
Background:
- Embryonal tumor with multilayered rosettes (ETMR) is a rare, aggressive central nervous system tumor.
- ETMR is defined by C19MC region amplification on chromosome 19 (Chr19q13.42).
- Few cases are reported, highlighting the need for more data.
Observation:
- An 18-month-old female infant presented with gait imbalance and progressive left-sided weakness.
- Clinical, radiologic, and histopathological findings were documented.
- The patient was diagnosed with ETMR.
Findings:
- Detailed clinical presentation and diagnostic workup of a rare pediatric brain tumor.
- Histopathological confirmation of ETMR.
- Characteristic genetic alteration (C19MC amplification) associated with ETMR.
Implications:
- Adds to the limited case data for ETMR, a rare pediatric CNS tumor.
- Provides a typical case example for clinicians and researchers.
- Contributes to understanding the clinical-radiologic and histopathological spectrum of ETMR.
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