从增生到癌瘤:一个分子驱动的上腺疾病
Elisa Dybal1,2, Myriam Decaussin-Petrucci2,3, Françoise Descotes4
1Endocrinology Department, Reference Centre for Rare Pituitary Diseases HYPO, "Groupement Hospitalier Est" Hospices Civils de Lyon, 69500 Bron, France.
European journal of endocrinology
|May 31, 2025
概括
双边麦克龙状上腺皮质疾病 (BMAD) 可能会在上腺皮质癌 (ACC) 发展之前发生. 这项案例研究表明,BMAD可能是ACC的早期阶段,需要更密切的放射监测.
科学领域:
- 内分泌学 在内分泌学.
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 双边上皮层疾病 (BMAD) 涉及双边良性上腺节,通常与自主皮质醇分泌.
- 瘤抑制基因的生殖系突变,特别是ARMC5,在约30%的BMAD病例中被发现.
- 从BMAD进展为上腺皮质癌 (ACC) 是罕见的,仅有有限的功能证据将两者联系起来.
研究的目的:
- 调查BMAD与ACC发展之间的潜在联系.
- 在BMAD的背景下产生的ACC病例中分析分子变化.
- 假设BMAD是ACC的潜在前体病变.
主要方法:
- 一个患有库辛综合征的患者在BMAD上的病例报告,后来患上了ACC.
- 已知瘤抑制基因 (CDKN1B,KDM1A,PRKACA,PRKAR1A,MEN1,APC,ARMC5,TP53) 的生殖线基因定型.
- 下一代测序ACC和相邻的上腺组织.
主要成果:
- 患者在初始BMAD诊断后的20年内发展出ACC.
- 生殖系基因定型在选的基因中没有发现任何致病变体.
- 实体分子分析表明,从良性结节到ACC的变化逐渐积累.
结论:
- BMAD可能代表ACC发展的早期阶段.
- 这些发现表明,从良性上腺节块到恶性瘤的潜在途径.
- 建议增加 BMAD 患者的放射性监测,以检测 ACC 的早期迹象.
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