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Pediatric intracerebral histiocytic sarcoma with rhabdoid features: Case report and literature review
Young Hye Kim1, Gie-Taek Yie2, Na Rae Kim1
1Department of Pathology, Gachon University Gil Hospital, Incheon, South Korea.
Abstract:
A 16-year-old boy presented with marked weight loss, weakness of the left extremities and dizziness of 2 months duration and vomiting for 2 days. Brain MRI showed an approximately 6.5 × 5.3 cm-sized huge heterogeneous enhancing mass located in the corpus callosum, extending into the lateral ventricle. Open biopsy showed that the lesion consisted of lymphoplasmacytes and plump histiocytes with rhabdoid morphology, which were stained with S-100 protein, CD68 (KP1) and negative for CD1a. Histiocytic tumor was initially diagnosed. Chemotherapy using methotrexate, 6-mercaptopurine, vinblastine, interferon-alpha and dexamethasone was performed. After 5 months, partial removal was done. Microscopically, plump and bizarre tumor cells as well as rhabdoid features were found. Occasional spindle cells and necrosis were also found. These cells were positive for CD163, CD68, lysozyme, CD4, INI-1 and BRG1. BRAF V600E mutation was detected. The lesion was finally diagnosed as histiocytic sarcoma. Radiotherapy (6000 cGy in 30 fractions) was done. Both cerebral and extracerebral histiocytic sarcomas have long been diagnosed by unclarified criteria; its rarity as well as previously unclarified criteria can easily lead to a misinterpretation. Histiocytic sarcoma of the CNS is exceptionally rare in children, associated with an exceptionally poor prognosis. To date, only seven cases of pediatric cerebral histiocytic sarcomas have been reported. The present case is the first pediatric case showing BRAF V600E-mutated intracerebral histiocytic sarcoma.
Insights
This case report details the first pediatric intracerebral histiocytic sarcoma with a BRAF V600E mutation. This rare central nervous system (CNS) cancer in children presents diagnostic challenges and has a poor prognosis.
Area of Science:
- Pediatric Oncology
- Neuro-oncology
- Histiocytic Disorders
Background:
- Histiocytic sarcoma is a rare malignancy with unclear diagnostic criteria, particularly in the central nervous system (CNS).
- CNS histiocytic sarcoma is exceptionally rare in children, with only seven previously reported cases.
- Accurate diagnosis is crucial due to the aggressive nature and poor prognosis associated with this condition.
Observation:
- A 16-year-old boy presented with weight loss, left-sided weakness, dizziness, and vomiting.
- Brain MRI revealed a large, heterogeneous mass in the corpus callosum extending into the lateral ventricle.
- Initial biopsy suggested a histiocytic tumor, later refined after treatment and further analysis.
Findings:
- Immunohistochemistry revealed tumor cells positive for CD163, CD68, lysozyme, CD4, INI-1, and BRG1.
- The presence of a BRAF V600E mutation was detected in the tumor cells.
- The final diagnosis was confirmed as pediatric cerebral histiocytic sarcoma, the first reported case with this specific mutation.
Implications:
- This case highlights the importance of comprehensive molecular profiling in diagnosing rare pediatric CNS tumors.
- The identification of BRAF V600E mutation may open avenues for targeted therapy in pediatric histiocytic sarcoma.
- Further research is needed to clarify diagnostic criteria and explore novel treatment strategies for this rare and aggressive malignancy.
