Zhang Yi, Li Victoria, Liu Jifang, Zhu Huijuan, Lu Lin, Pan Hui, Wang Renzhi, Deng Kan, Yao Yong
Department of Neurosurgery, Peking Union Medical College Hospital, Chinese Academy of Medical Science and Peking Union Medical College, Beijing, China.
Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Melbourne, VIC, Australia.
Front Neurosci. 2023 Oct 12;17:1191596. doi: 10.3389/fnins.2023.1191596. eCollection 2023.
Metastatic PitNETs are a rare life-threatening condition with poor prognosis and documentation. Due to the scarce literature and lack of precise treatment, we hope to better characterise PitNET using the next-generation whole exon sequencing (WES) and RNA sequencing. This case study outlines a 54 years-old man and a 52 years-old woman who were both diagnosed with PitNET and analysis of peripheral blood and tumours were performed by WES and RNA sequencing. Analysis showed that DICER1 mutations in precancerous lesions and LAG3 overexpression were significant in aiding the prognosis and diagnosis of PitNETs. The first case with overexpressed LAG3 and DICER1 mutation died 26 months later, and the second case with LAG3 overexpression achieved partial remission. This study revealed that heightened expression of LAG3 offered promising targets for ICI and mutations in DICER1 could provide markers for effective diagnosis and prognosis.
转移性垂体神经内分泌肿瘤（PitNETs）是一种罕见的危及生命的疾病，预后较差且相关文献记载较少。由于相关文献稀缺且缺乏精准的治疗方法，我们希望通过新一代全外显子测序（WES）和RNA测序来更好地表征垂体神经内分泌肿瘤。本病例研究概述了一名54岁男性和一名52岁女性，他们均被诊断为垂体神经内分泌肿瘤，并通过WES和RNA测序对其外周血和肿瘤进行了分析。分析表明，癌前病变中的DICER1突变和LAG3过表达对垂体神经内分泌肿瘤的预后和诊断有重要意义。第一例LAG3过表达且存在DICER1突变的患者在26个月后死亡，第二例LAG3过表达的患者实现了部分缓解。本研究表明，LAG3表达升高为免疫检查点抑制剂（ICI）提供了有前景的靶点，而DICER1突变可为有效的诊断和预后提供标志物。
