Ma Yimei, Guo Xia, Wan Zhi, Liu Hanmin, Gao Ju
Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, China.
Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Chengdu, China.
Front Oncol. 2022 Apr 14;12:835076. doi: 10.3389/fonc.2022.835076. eCollection 2022.
Erdheim-Chester disease (ECD) is a rare non-Langerhans cell histiocytosis caused by the expression of CD68-positive and CD1a-negative foam tissue cells, which is polar in pediatric patients. The study reports a case of an 8-year-old Chinese boy who presented with polydipsia and polyuria for 4 years, followed by central nervous system symptoms. Magnetic resonance imaging (MRI) showed a large lesion in the lateral ventricle. The histiocytes stained positively for CD68, CD163 and negatively for CD1a, glial fibrillary acidic protein (GFAP) and langerin, and were partially positive for S100 by immunohistochemical assay. More importantly, BRAFV staining was positive in tissue, and the BRAF mutations was also detected by real-time quantitative PCR (RT-qPCR) in the intracranial lesion tissue. According to our review of the literature, this is a rare case of ECD in the ventricle, with a younger age.
Erdheim-Chester病（ECD）是一种罕见的非朗格汉斯细胞组织细胞增多症，由CD68阳性和CD1a阴性的泡沫组织细胞表达引起，在儿科患者中具有极性。该研究报告了一例8岁中国男孩，他出现多饮多尿4年，随后出现中枢神经系统症状。磁共振成像（MRI）显示侧脑室有一个大病变。组织细胞经免疫组织化学检测，CD68、CD163染色阳性，CD1a、胶质纤维酸性蛋白（GFAP）和朗格蛋白染色阴性，S100部分阳性。更重要的是，组织中BRAFV染色呈阳性，颅内病变组织经实时定量PCR（RT-qPCR）也检测到BRAF突变。根据我们对文献的回顾，这是一例罕见的脑室ECD病例，患者年龄较小。
