伴EWSR1基因重排的颅内黏液样间叶性肿瘤临床病理分析  

Clinicopathological features of intracranial myxoid mesenchymal tumor with EWSR1 rearrangement

作　　者：段书强 周和平 宣兰兰[1] DUAN Shu-qiang;ZHOU He-ping;XUAN Lan-lan(Department of Pathology,Anqing Medical Center,Anhui Medical University,Anqing Municipal Hospital,Anqing 246003,China;Department of Neurosurgery,Anqing Medical Center,Anhui Medical University,Anqing Municipal Hospital,Anqing 246003,China)

机构地区：[1]安徽医科大学安庆医学中心,安庆市立医院病理科,安徽安庆246003 [2]安徽医科大学安庆医学中心,安庆市立医院神经外科,安徽安庆246003

出　　处：《诊断病理学杂志》2024年第5期387-390,395,共5页Chinese Journal of Diagnostic Pathology

基　　金：安庆市卫生健康委科研项目(AQWJ2022001)。

摘　　要：目的 探讨伴EWSR1基因重排的颅内黏液样间叶性肿瘤(IMMT)的临床病理特征、诊断、鉴别诊断和预后。方法 对1例伴EWSR1基因重排的IMMT的临床和影像学表现、组织学形态、免疫组化和分子检测结果进行分析,并复习相关文献。结果 患者男性,48岁,数月以来常无明显诱因反复头晕,影像学检查显示右侧顶部大脑镰旁结节状占位。组织病理学显示肿瘤呈多结节状,局部囊性变,周围均可见淋巴组织袖套及滤泡生发中心形成,结节内可见由短梭形细胞构成的纤维样区域和间质显著黏液变的区域。免疫组织化学染色显示肿瘤细胞不同程度表达EMA、CD99、Desmin及CD68。荧光原位杂交检测显示肿瘤细胞EWSR1基因重排。术后随访32个月,患者情况良好,无复发及转移征象。结论 伴EWSR1基因重排的IMMT是《世界卫生组织(2021)中枢神经系统肿瘤分类》新增的肿瘤类型,属罕见肿瘤,其临床病理诊断较困难,确诊需结合组织学形态、免疫组化和分子检测,长期随访显示肿瘤具有惰性生物学行为。Objective To investigate the clinicopathological characteristics, diagnostic, differential diagnosis, and prognostic features of intracranial myxoid mesenchymal tumor(IMMT) with EWSR1 gene rearrangement. Methods The clinical features and imaging manifestations, histopathology, immunohistochemistry, and molecular detection results of a case of IMMT with EWSR1 gene rearrangement were analyzed. The relevant literature was also reviewed. Results The patient was a 48-year-old male who had been experiencing frequent dizziness for several months without obvious causes. Imaging examination showed a nodular lesion in the right top falx of the brain. Histopathology revealed that the tumor was multinodular, locally cystic, surrounded by lymphoid tissue sleeves and follicular centers, and contained fibrous areas composed of short fusiform cells and significantly mucinous areas in the interstitium. Immunohistochemical staining showed that the tumor cells expressed EMA, CD99, Desmin, and CD68 to varying degrees. Fluorescence in situ hybridization detected EWSR1 gene rearrangement in the tumor cells. The patient was followed up for 32 months after surgery and showed no signs of recurrence or metastasis. Conclusion IMMT with EWSR1 gene rearrangement is a rare type of tumor added to the 2021 World Health Organization classification of central nervous system tumors. The clinical and pathological diagnosis is difficult, which requires a combination of histopathology, immunohistochemistry, and molecular testing. Long-term follow-up shows that these tumors have an indolent biological behavior.

关 键 词：间叶性肿瘤 颅内 病理诊断 EWSR1 PET::CREB 

分 类 号：R739.41[医药卫生—肿瘤]