唐氏综合征相关白血病的管理:一篇综述
Anupam Verma1, Philip J Lupo2, Nirali N Shah1
1Pediatric Oncology Branch, Center for Cancer Research (CCR), NCI, NIH, Bethesda, Maryland.
JAMA oncology
|July 13, 2023
概括
患有唐氏综合征 (DS) 的儿童患急性白血病 (DS-AL) 的风险明显更高. 研究重点是改善DS-AL的治疗和生存,解决管理复发性疾病和晚期影响的挑战.
科学领域:
- 遗传学和瘤学研究
- 儿科血液学/瘤学
背景情况:
- 唐氏综合症 (DS) 是一种常见的遗传疾病,由三形21引起.
- 患有DS的人患急性白血病 (DS-AL) 的风险明显增加,包括急性髓性白血病 (AML) 和急性淋巴细胞白血病 (ALL).
- 在患有DS的婴儿中观察到过渡性异常骨髓形成 (TAM),其中的一个子集进展为与DS相关的骨髓性白血病 (ML-DS).
研究的目的:
- 对儿童,青少年和年轻人 (AYA) 的DS-AL进行当前的研究和临床试验进行审查.
- 讨论这个人群的呈现,治疗,临床试验设计和伦理考虑.
- 突出管理复发性白血病和DS-AL幸存者的晚期影响的挑战.
主要方法:
- 审查国家卫生研究院赞助的会议 (ImpacT21) 专注于DS-AL研究.
- 对最近研究的分析,这些研究描述了从TAM到ML-DS的进展过程中的体质突变.
- 评估旨在减少与治疗相关的死亡率 (TRM) 和改善生存率的临床试验策略.
主要成果:
- 虽然患有ML-DS的儿童比非DS的AML表现更好,但复发仍然至关重要.
- 与非DS ALL相比,DS-ALL患者的结果较差,原因是TRM增加和复发.
- 根据体位突变预测TAM到ML-DS的进展目前是难以捉摸的.
结论:
- 最佳的DS-AL管理需要分子测试,支持性护理和量身定制的疗法.
- 对于复发的DS-AL.缺乏标准化的治疗方法.
- 未来的研究应该专注于识别毒性生物标志物,加强合作,促进新药的获取,并研究晚期影响.
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