关于对有血生恶性病的倾向的儿童进行监测的建议的最新情况
Luke D Maese1, Marcin W Wlodarski2, Sun Young Kim3
1University of Utah-Huntsman Cancer Institute, Primary Children's Hospital, Salt Lake City, Utah.
概括
有遗传变异的儿童面临更高的骨髓质疏松综合征 (MDS) 和其他血液癌症的风险. 更新的指导方针建议针对这些儿童进行量身定制的监测,包括基因检测和骨髓检查,以改善结果.
科学领域:
- 儿科血液学 瘤学 儿科血液学
- 癌症遗传学 癌症遗传学
- 基因组学和精准医学精准医学
背景情况:
- 生殖系基因变异增加了儿童患髓囊炎综合征 (MDS) 和血液形成性恶性瘤 (HM) 的风险.
- 通过造血干细胞移植的早期干预可以改善高风险MDS倾向的生存率.
- 关于儿童癌症倾向 (HMP) 的预先监测建议于2017年制定.
研究的目的:
- 根据最近的科学进展,更新对患有HMP的儿童的监测建议.
- 为所有患有HMP的儿童提供一般指导.
- 建立基因特异性监测协议,对患MDS风险较高的儿童进行监测.
主要方法:
- 一个多学科专家小组在2023年AACR儿童癌症倾向研讨会上召开会议.
- 审查了HMP和基因发现的最新进展.
- 更新了现有的监测指南,并制定了新的基因特定建议.
主要成果:
- 一般建议包括年度体检,HM症状教育,专家咨询和早期造血干细胞移植专家评估.
- 针对高MDS风险综合征的具体建议包括定期,全面的监测.
- 这包括连续骨髓检查和体质突变的深度测序.
结论:
- 基于遗传特征的个性化监测策略对于管理患有HMP的儿童至关重要.
- 这些更新的建议将指导未来对这些疾病的管理.
- 持续发现与HMP相关的基因以及对自然历史的更好理解将改进未来的指导方针.
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