对比的表观基因组学表明异位外和细胞内皮质变性垂体神经内分泌瘤/腺瘤的共同起源:一个病例报告
Alonso Barrantes-Freer1, Max Braune2, Benjamin Sandner3
1Paul-Flechsig-Institute of Neuropathology, University Hospital Leipzig, Leipzig, Germany. Alonso.Barrantes-Freer@medizin.uni-leipzig.de.
Virchows Archiv : an international journal of pathology
|February 12, 2024
概括
异位垂体神经内分泌瘤 (PitNETs) 使用DNA甲基化分析进行了分析. 研究结果揭示了与细胞PitNETs相似的表观遗传特征,表明了共同的细胞起源,并验证了用于诊断这些罕见瘤的甲基化分析.
科学领域:
- 内分泌学 在内分泌学.
- 神经瘤学神经瘤学
- 表观遗传学 在表观遗传学中,表观遗传学是指表观遗传学.
背景情况:
- 异位垂体神经内分泌瘤 (PitNETs) /腺瘤是罕见的,细胞外瘤,具有诊断挑战.
- 表观基因组分析已被证明是诊断细胞瘤和理解PitNET/腺瘤细胞起源的有价值的方法.
- 异胎性PitNETs的病变发生和表观基因组景观在很大程度上仍未被探索.
研究的目的:
- 为了研究异位垂体神经内分泌瘤的表观基因组概况.
- 为了比较子宫外PitNET的甲基化概况与细胞瘤瘤的参考队列.
- 评估全基因组DNA甲基化分析在诊断罕见宫外PitNETs中的有用性.
主要方法:
- 一个81岁的患者的病例报告,患有形外宫稀细颗粒状皮质变性皮质瘤PitNET/腺瘤.
- 在异胎性瘤上进行了全基因组DNA甲基化分析.
- 甲基化档案与细胞瘤参考队列进行了比较,包括复制数变异分析.
主要成果:
- 宫外PitNET/腺瘤表现出类似于参考细胞皮质变异PitNET/腺瘤的表观基因组特征.
- 副本数变异分析显示了染色体18和22的损失.
- 甲基化概况与细胞皮质变异性PitNET/腺瘤显示一致,这表明它们具有共同的细胞起源.
结论:
- 外阴PitNET/腺瘤的表观遗传特征与它们的细胞对应物相似.
- 基因甲基化分析是罕见异胎性PitNETs的可靠诊断方法.
- 这些发现表明,宫外和细胞PitNETs都有一个共同的细胞起源.
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