检测到EWSR1基因转位的原发性肺神经瘤:一个病例报告
Minghui Lin1,2, Xuyu Chen1,2, Fan Lin1,2
1Department of Thoracic Surgery, West China Xiamen Hospital of Sichuan University, Xiamen, China.
AME case reports
|February 12, 2026
概括
初级肺部状肉瘤 (PPMS) 是一种罕见的癌症,由EWSR1::CREB1融合定义. 这一案例突出了偶然检测和手术管理,强调了持续监测的必要性.
科学领域:
- 在瘤学瘤学.
- 病理学 病理学 病理学
- 胸部外科手术 胸部外科手术
背景情况:
- 初级肺部状肉瘤 (PPMS) 是一种罕见的低度恶性瘤.
- 由于非特异性症状,诊断往往是偶然的,使得与其他肺部瘤的差异化变得复杂.
- 关键的诊断标记包括EWSR1重新排列和EWSR1::CREB1融合.
研究的目的:
- 报告一个偶然检测到的原发性肺部状肉瘤病例.
- 为了说明PPMS的诊断和手术管理.
- 为了强调最终的病理确认和随访的重要性.
主要方法:
- 一个52岁的女性的病例报告,偶然发现了一个肺结节.
- 诊断工作包括成像 (CT,PET) 和随后的单门视频辅助胸腔镜手术 (UVATS) 进行右中叶切除术.
- 术后分析涉及组织病理学,免疫组织化学和光 in situ 杂交 (FISH) 对于 EWSR1::CREB1 融合.
主要成果:
- 患者呈现了一种偶然检测到的右中叶结节.
- 通过UVATS进行了手术切除,冷部分表明良性病变.
- 手术后的病理学证实了原发性肺肌状肉瘤与EWSR1::CREB1融合.
- 患者经历了无事件的恢复,并在六个月的随访中没有出现异常.
结论:
- PPMS是一种罕见的低度肉瘤,具有关键的诊断遗传标记.
- 手术切除是主要的治疗方法,但需要持续监测复发或转移.
- 为了标准化治疗方案和了解PPMS生物学,需要进一步的研究.
相关概念视频
Reporter Genes
13.4K
Reporter genes are a type of protein-coding gene that are often tagged to a gene of interest. Once inside a target cell, reporter genes usually produce visually identifiable characteristics like fluorescence and luminescence when expressed along with the gene of interest. Thus, reporter genes “report” the presence or absence of genes of interest in an organism, determine the gene expression pattern, or track the physical location of a DNA segment or protein in the cell.
13.4K
Cotranslational Protein Translocation
10.0K
Translocation of proteins across membranes is an ancient process that occurs even in bacteria and archaebacteria. In fact, the components of the translocation machinery are still conserved between prokaryotes and eukaryotes.
Sec61 channel partners for cotranslational translocation
During cotranslational translocation, the Sec61 channel partners with the signal recognition particle (SRP), the signal recognition particle receptor (SR), and the ribosomes to transport the nascent polypeptide chain...
Sec61 channel partners for cotranslational translocation
During cotranslational translocation, the Sec61 channel partners with the signal recognition particle (SRP), the signal recognition particle receptor (SR), and the ribosomes to transport the nascent polypeptide chain...
10.0K
Energy to Drive Translocation
2.9K
Mitochondrial protein import is powered by two distinct energy sources: ATP hydrolysis and electrochemical potential across the inner membrane. Newly synthesized precursors are bound by cytosolic chaperones of the Hsp70 family, which guide them to the import receptors on the mitochondrial surface. Utilizing the energy of ATP hydrolysis, Hsp70 chaperones transfer these precursors to the TOM receptors on the mitochondrial outer membrane.
Generally, polypeptides are unfolded by two distinct...
Generally, polypeptides are unfolded by two distinct...
2.9K
Translocation of Proteins into the Mitochondria
13.5K
Mitochondrial precursors are translocated to the internal subcompartments via independent mechanisms involving distinct protein machineries called translocases.
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
Sorting of outer membrane proteins:
Mitochondrial outer membrane proteins are of two types: the transmembrane, beta-barrel porins, and the membrane-anchored, alpha-helical proteins. Beta-barrel porin precursors are translocated by the TOM complex and inserted into the outer mitochondrial membrane by the SAM complex. In contrast,...
13.5K
Data Reporting and Recording
5.5K
Reporting and recording are crucial in data documentation. The timely, thorough, and accurate documentation of facts is essential when recording patient data. Failure to record findings during an assessment or interpretation of a problem will result in loss of information and make the patient document unreliable. The reader is left with general impressions if the information is not specific. A recording is documenting data of the individual's health information in a traceable, secure, and...
5.5K
Bacterial Translocation and Protein Secretion
739
Bacterial protein secretion involves translocation systems to ensure proteins reach their designated locations, including the plasma membrane, periplasm, outer membrane, or the external environment. These translocation systems are vital for bacterial physiology, supporting processes like membrane assembly, enzymatic activity in the periplasm, and interactions with the external environment. The division of labor between Sec and Tat pathways ensures efficiency in handling proteins with diverse...
739


