ellar神经细胞瘤的临床病理和分子概况

IF 5 2区 医学 Q1 ENDOCRINOLOGY & METABOLISM Journal of Clinical Endocrinology & Metabolism Pub Date : 2025-02-18 DOI:10.1210/clinem/dgae260
Yulou Liu, Jing Guo, Jianhua Cheng, Qiuyue Fang, Dawei Wang, Weiyan Xie, Chuzhong Li
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引用次数: 0

摘要

目的:研究Sellar神经细胞瘤(SN)的临床特征、影像学特征和分子谱:研究绒毛膜神经细胞瘤(Sellar neurocytoma,SN)的临床特征、影像学特征和分子特征:方法:回顾性分析11例蝶鞍神经细胞瘤的临床、影像学和病理学特征。对五例病例进行了电子显微镜检查。通过 RNA 测序、qPCR 和 IHC 检测肿瘤组织的分子特征:SN患者的临床特征显示,低钠血症发生率高(73%,8/11),术前影像学分析显示肿瘤倾向于侵犯鞍区外侧。肿瘤NeuN、SYN、NF、SSTR2免疫组化染色阳性。肿瘤转录组学分析表明,SN中存在一个新的LMCD1-AS1:GRM7-AS1融合基因事件,并且下丘脑分泌的10种激素表达增加。对 15 个差异表达基因进行了 qPCR 验证。SSTR2已通过免疫组化验证:低钠血症是SN的主要临床特征。结论:低钠血症是SN的主要临床特征,术前影像学检查表明,向背侧生长是SN的影像学特征。SSTR2表达和LMCD1-AS1:GRM7-AS1融合基因事件有望成为SN的新分子标记物。体生长抑素受体配体疗法可能是SN的一种潜在疗法。
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Clinicopathological and Molecular Profile of Sellar Neurocytoma.

Objective: To investigate the clinical features, imaging characteristics, and molecular profile of sellar neurocytoma (SN).

Methods: Clinical, imaging, and pathological features of 11 cases of SN were retrospectively analyzed. Electron microscopy was performed in 5 cases. Molecular features were detected in tumor tissue by RNA sequencing, quantitative polymerase chain reaction, and immunohistochemistry.

Results: The clinical features of SN patients showed a high incidence of hyponatremia (73%, 8/11), and the tumors tended to invade the lateral side of the saddle area from preoperative imaging analysis. The tumors had positive NeuN, synaptophysin, neurofilament, somatostatin receptor 2 (SSTR2) immunohistochemistry staining. Tumor transcriptomic analysis suggested a new LMCD1-AS1:GRM7-AS1 fusion gene event and increased expression of 10 hypothalamus-secreted hormones in SN. Fifteen differentially expressed genes were verified for quantitative polymerase chain reaction verification. SSTR2 has been verified by immunohistochemistry.

Conclusion: Hyponatremia is the dominant clinical features of SN. Preoperative imaging suggests that growth toward the dorsal region is the imaging feature of SN. SSTR2 expression and LMCD1-AS1:GRM7-AS1 fusion gene event expected to become a new molecular marker for SN. Somatostatin receptor ligand therapy may be a potential therapy for SN.

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来源期刊
Journal of Clinical Endocrinology & Metabolism
Journal of Clinical Endocrinology & Metabolism 医学-内分泌学与代谢
CiteScore
11.40
自引率
5.20%
发文量
673
审稿时长
1 months
期刊介绍: The Journal of Clinical Endocrinology & Metabolism is the world"s leading peer-reviewed journal for endocrine clinical research and cutting edge clinical practice reviews. Each issue provides the latest in-depth coverage of new developments enhancing our understanding, diagnosis and treatment of endocrine and metabolic disorders. Regular features of special interest to endocrine consultants include clinical trials, clinical reviews, clinical practice guidelines, case seminars, and controversies in clinical endocrinology, as well as original reports of the most important advances in patient-oriented endocrine and metabolic research. According to the latest Thomson Reuters Journal Citation Report, JCE&M articles were cited 64,185 times in 2008.
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