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与EPAS1相关的染细胞瘤/结质瘤
Ali S Alzahrani1,2, Meshael Alswailem2, Alexandre Buffet3,4
1Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Endocrine-related cancer
|May 20, 2024
概括
索马性EPAS1变异导致罕见的染细胞瘤/副质瘤 (PPGLs) 与多细胞瘤和体静脉瘤. 转移性PPGLs并不常见,通常是惰的,正如一位47年生存期的患者所示.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 遗传学 是一个
背景情况:
- 在2012年发现的体质EPAS1致病变体会导致三重体的发红细胞瘤/偏角瘤 (PPGLs),多细胞血症和体静脉瘤.
- 关于这种罕见综合征中转移性疾病的长期结果的数据有限.
研究的目的:
- 综合审查与EPAS1相关的PPGL.
- 描述一个与EPAS1相关的转移性PPGL长期存活的不寻常患者.
- 分析PPGL中EPAS1致病变体的特征和结果.
主要方法:
- 综合文献综述. 这是一个全面的文献综述.
- 一个患有转移性PPGL的患者的案例研究.
- 在患有PPGL的患者中分析遗传变异 (EPAS1).
主要成果:
- 病原性EPAS1变异很少见,在女性和没有其他PPGL敏感性基因变异的个体中更为频繁.
- PPGLs是最常见的表现,其次是多细胞血症和体静脉瘤.
- EPAS1 变种通常是后囊性,发育时间与疾病表现相关. 远程转移不常见,通常是惰的.
结论:
- 与EPAS1相关的PPGL很少见,PPGL是最常见的表现.
- 与EPAS1相关的PPGLs的远程转移不常见,并且比其他遗传PPGLs更不具侵略性.
- 一个患者病例表明,转移性EPAS1相关PPGL的47年生存率,突出显示了疾病的惰性.
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