脑脊液细胞学与二代基因测序诊断子宫内膜癌软脑膜转移1例  

Diagnosis of a case of leptomeningeal metastasis from endometrial carcinoma by next-generation sequencing and cerebrospinal fluid cytology

作　　者：李玲钰 蔡耘[1] 陈亚南 邸卫英[1] Li Lingyu;Cai Yun;Chen Yanan;Di Weiying(Department of Neurology,Hospital of Hebei University,Baoding 071000,China)

机构地区：[1]河北大学附属医院神经内科,保定071000

出　　处：《中华神经科杂志》2023年第5期552-556,共5页Chinese Journal of Neurology

基　　金：2022年河北省政府资助临床医学优秀人才培养项目(361007)。

摘　　要：子宫内膜癌属于女性生殖系统常见的恶性肿瘤之一,发生软脑膜转移极为罕见。而脑膜癌病的临床表现及体征复杂且缺乏特异性,早期诊断困难,易漏诊、误诊。现报道1例经脑脊液细胞学与二代基因测序诊断的子宫内膜癌软脑膜转移患者。患者老年女性,既往存在子宫内膜癌病史;以发热伴头痛、头晕为主要表现;脑脊液细胞学检查可见肿瘤细胞;子宫内膜癌组织、血浆及脑脊液二代基因测序检出突变基因:AKT1基因及TP53基因;给予鞘内注射、免疫治疗联合抗血管生成等治疗,患者病情仍逐渐进展最终死亡。文中详细介绍该病例诊治经过,以期提高临床医师对子宫内膜癌脑膜转移的早期识别及早期治疗能力。Endometrial carcinoma is one of common malignant tumors in female reproductive system,but it is extremely rare in leptomeningeal metastasis.The clinical manifestations and signs of meningeal carcinomatosis are complex and not specific.It is difficult to get a precise diagnosis early,and it has high rate of misdiagnosis and missed diagnosis.Accurate diagnosis and treatment of a case of leptomeningeal metastasis from endometrial carcinoma by next-generation sequencing and cerebrospinal fluid cytology are reported.The patient is an elderly female with a history of endometrial cancer.The main manifestations were fever,headache and dizziness;cerebrospinal fluid cytology showed tumor cells;AKT1 gene and TP53 gene were detected in endometrial carcinoma tissue,plasma and cerebrospinal fluid by next-generation sequencing.After treatment with intrathecal chemotherapy,immunotherapy combined with anti angiogenesis,the patient′s condition still progressed gradually and died finally.The purpose of this case report is to raise clinical awareness of recognition and treatment in early meningeal metastasis of endometrial carcinoma.

关 键 词：脑膜 肿瘤转移 癌 子宫内膜样 脑脊液细胞学 二代基因测序 

分 类 号：R737.33[医药卫生—肿瘤]