Clin Neuropathol. 2022 Nov-Dec;41(6):253-262. doi: 10.5414/NP301473.
Primary histiocytic sarcoma of the central nervous system is a rare lymphohematopoietic tumor originating from histiocytes. Here we report such a case with somatic mutation. Based on imaging studies, a 24-year-old woman presented with a homogeneously enhancing lesion in the right parietal lobe region and without other organ involvement. Histological analysis showed that the pleomorphic tumor cells were loosely arranged, and the neoplastic cells are characterized by abundant eosinophilic cytoplasm, highly atypical nuclei, and prominent nucleoli. The lesional cells were immunoreactive with antibodies against -CD68KP1, CD163 focally, lysozyme, and BRAF V600E. NGS-based genetic profiling revealed a pathogenic somatic (p.R196*) mutation. Additionally, (p.V600E), (p.V561D), (p.H437Q, VUS), and (p.E2343A, VUS) mutations were detected. However, the tumor did not respond to apatinib and anlotinib treatment, and the patient died 10 months after the initial diagnosis.
原发性中枢神经系统组织细胞肉瘤是一种罕见的淋巴造血系统肿瘤，来源于组织细胞。在此，我们报告了这样一个具有体细胞突变的病例。基于影像学研究，一名 24 岁女性表现为右顶叶区域均匀强化病变，无其他器官受累。组织学分析显示，多形性肿瘤细胞排列疏松，肿瘤细胞的特征是丰富的嗜酸性细胞质、高度非典型核和明显的核仁。病变细胞对 CD68KP1、CD163 局灶性、溶菌酶和 BRAF V600E 抗体呈免疫反应性。基于 NGS 的遗传分析显示存在致病性体细胞突变（p.R196*）。此外，还检测到 （p.V600E）、 （p.V561D）、 （p.H437Q，VUS）和 （p.E2343A，VUS）突变。然而，肿瘤对阿帕替尼和安罗替尼治疗无反应，患者在初始诊断后 10 个月死亡。
