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病例系列:四名患有转移性叶绿细胞瘤的患者的ATRX变异
Briana N Cortez1, Mickey J M Kuo1,2, Abhishek Jha1
1Section on Medical Neuroendocrinology, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, United States.
肌体ATRX变异体在染细胞瘤/副质瘤 (PCC/PGL) 中显示出侵袭性疾病. 使用131I-MIBG或177Lu-DOTATATE的向放射治疗在化疗失败的情况下显示出有效性.
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:
- 人体ATRX变异很少在侵袭性黄染色细胞瘤/副质瘤 (PCC/PGL) 中报告.
- 这些患者的详细临床表现,成像和管理仍然未得到充分探索.
研究的目的:
- 描述体质ATRX变异的PCC患者的临床特征,生化表型和管理结果.
- 评估不同功能成像模式和全身治疗的疗效.
主要方法:
- 在国家卫生研究院PCC/PGL队列中,对192名患者进行了exome测序.
- 鉴定了四名患有体质ATRX变异的男性患者,并分析了临床表现,生化数据和成像.
- 功能性成像方式 (18F-FDOPA PET/CT,68Ga-DOTATATE,18F-FDG,18F-FDA,123I-MIBG) 和治疗反应进行了比较.
主要成果:
- 所有四名体质ATRX变异患者都发展出广泛的转移性疾病,证实了瘤的攻击性行为.
- 在所有患者中观察到一种诺拉德仁基生物化学表型,其中一些患者呈现出高水平的3-甲西提拉胺.
- 与其他方式相比,18F-FDOPA PET/CT显示出优异的病变检测 (100%).
结论:
- 阴性ATRX变种与攻击性,转移性PCC/PGL相关.
- 18F-FDOPA PET/CT是这些瘤的首选功能成像技术.
- 向放射治疗 (131I-MIBG,177Lu-DOTATATE) 在化疗和氨酸激酶抑制剂失败的情况下显示出有效性.
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