Brain Tumor Res Treat.  2025 Jan;13(1):23-28. 10.14791/btrt.2024.0042.

A Rare Case of Isolated Central Nervous System Neoplasm With Histiocytic Features

• Choi Y
• Lee Y
• Kim YI
• Yang SH

• KMID: 2565046
• DOI: http://doi.org/10.14791/btrt.2024.0042

Abstract

This paper discusses a rare case of a 49-year-old female diagnosed with a central nervous systemisolated neoplasm with histiocytic features, classified as histiocytic neoplasm, not otherwise specified (NOS). Despite comprehensive histopathological and genetic studies, accurately diagnosing the case proved challenging. Initial surgical findings and frozen biopsy suggested a low-grade glioma; however, subsequent immunohistochemistry and genetic analysis excluded known histiocytic subtypes such as ALK-positive histiocytosis and Erdheim-Chester disease. The patient’s condition improved following occupational rehabilitation therapy for right upper motor weakness, as well as anticonvulsant and radiation therapy, and her neurological condition remains stable. This case underscores the diagnostic challenges of Histiocytic Neoplasms and the necessity for interdisciplinary collaboration and sophisticated diagnostic techniques.

Keyword

Histiocytosis; Erdheim-Chester disease; Brain neoplasms; Immunohistochemistry

Figure

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  Fig. 1 MRI images of the patient. An enhancing lesion in the left parietal lobe is observed; a large area of perilesional brain edema is also visible. A: T2-weighted image. B: T1-weighted image. C: T2-weighted-fluid-attenuated inversion recovery. D: Enhancing image. (A), (B), and (C) were taken by the local hospital two days before the patient visited the out-patient department, while the enhancing image was taken at our hospital the day before surgery.

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  Fig. 2 Intraoperative microscopic image of the lesion. A: The lesion did not show activation of 5-aminolevulinic acid. B: The pathological lesion was challenging to distinguish from normal tissue visually.

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  Fig. 3 H&E stain and Immunohistochemical profiles of the tumor. A: H&E staining. Foamy histiocytes with lymphocytic infiltration are observed (×100). B: Higher magnification image of H&E (×400). Higher magnification H&E imaging revealed denser cytoplasm with lymphocytic infiltration. C: Tumor is positive for CD68 (×200). D: The tumor showed negativity for BRAF V600E (×200). E: Tumor is negative for Langerin (×200). F: Tumor showed nagativity for CD1a (×200). G: Tumor is positive for ALK (D5F3) (×200). H: Tumor is equivocal for ALK-1 (×200). I: Tumor showed negativity for S-100 (×200). J: Tumor showed negativity for Cyclin D1 (×200). K: Tumor is negative for GFAP (×200). L: Ki-67 index was 5.51%, indicating a relatively low proliferative activity of the tumor cells (×200). H&E, hematoxylin and eosin; ALK, anaplastic lymphoma kinase; GFAP, glial fibrillary acidic protein.

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