Department of Hematology, Guangzhou Women and Children's Medical Center, Guangzhou Medical University, Guangzhou, China.
Department of Obstetrics, Beijing Obstetrics and Gynecology Hospital, Capital Medical University, Beijing, China.
Diagn Cytopathol. 2021 Aug;49(8):E320-E324. doi: 10.1002/dc.24742. Epub 2021 Mar 22.
Rhabdomyosarcoma (RMS) originates from a differentiation block in muscle progenitors. Leptomeningeal metastasis is a rare but devastating complication of RMS which can be caused by dissemination of cancer cells in cerebrospinal fluid (CSF). Here, we present a 4-year-old female with RMS originating from the upper nasal wall. The following histologic and immunohistochemistry analyses combined with molecular testing analysis supported the diagnosis of embryonal rhabdomyosarcoma (ERMS). Results from CSF routine test, magnetic resonance imaging scans and CSF cytology indicated metastatic meningitis, thus confirming the diagnosis of metastatic ERMS in CSF. This is the first report to describe the clinical features of ERMS in CSF.
横纹肌肉瘤（RMS）起源于肌肉祖细胞的分化阻滞。脑脊膜转移是 RMS 的一种罕见但严重的并发症，可能是由于癌细胞在脑脊液（CSF）中的播散所致。在此，我们报告了一例源自上鼻壁的 RMS 女性 4 岁患儿。以下组织学和免疫组织化学分析结合分子检测分析支持胚胎性横纹肌肉瘤（ERMS）的诊断。CSF 常规检查、磁共振成像扫描和 CSF 细胞学结果提示转移性脑膜炎，从而确诊 CSF 中的转移性 ERMS。这是首例描述 CSF 中 ERMS 临床特征的报告。
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