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在先进的分子诊断时代的儿童血液病理学:我们所知道的,以及如何应用更新的分类

Yen-Chun Liu¹, Julia T Geyer²

¹Department of Pathology, St. Jude Children's Research Hospital, Memphis, Tennessee, USA.

Pathobiology : journal of immunopathology, molecular and cellular biology

|June 13, 2023

概括

儿童血液性恶性瘤具有独特的遗传特征. 评估患有这些癌症的儿童的生殖线倾向对于诊断和治疗至关重要,特别是在骨髓质疏松综合征/新型瘤 (MDS) 中.

科学领域:

儿科血液学儿科血液学
在瘤学瘤学.
分子诊断学分子诊断
遗传学遗传学是一个

背景情况:

小儿血液恶性瘤与成人形式相比,具有不同的遗传特征,影响病变发生.
分子诊断,特别是下一代测序,已经改变了血液学疾病的诊断,识别了新的子组和预后标记.
在血液瘤中越来越多地认识到生殖线倾向,在儿科患者中患病率更高,影响疾病模型和管理.

研究的目的:

审查儿科血液性恶性瘤的最新进展,包括青少年骨髓性单细胞白血病,儿科急性骨髓性白血病,B型淋巴细胞白血病/淋巴瘤,以及儿科骨髓性形综合征/新生瘤 (MDS).
讨论评估儿科血液恶性瘤中生殖线倾向的临床意义.
纳入国际共识分类 (ICC) 和世界卫生组织 (WHO) 分类第五版的更新.

主要方法:

文献综述,重点关注儿科血性恶性瘤的最新进展.
分析分子诊断和下一代测序的作用.
在小儿血液癌症中讨论生殖线倾向.
包括更新的分类系统 (ICC和WHO第五版).

主要成果:

分子诊断已经完善了对儿科血性恶性瘤的理解和分类.
生殖线倾向起着重要作用,特别是在儿科骨髓质疏松综合征/新生瘤 (MDS) 中.
最近的分类 (ICC,世卫组织第5版) 为这些疾病提供了最新的框架.

结论:

分子诊断的进步和生殖线倾向的识别正在重塑对儿科血液恶性瘤的治疗方法.
对生殖线倾向的评估在儿科患者中具有临床影响,特别是那些患有MDS的患者.
更新的分类为这些疾病提供了更好的诊断和预后指导.

关键词:

所有的,所有的,所有的.急性骨髓性白血病 (AML) 是一种急性骨髓性白血病.分类分类分类分类.遗传学遗传学是一个发生在生殖线上的倾向性.青少年骨髓单细胞白血病 (JMML) 是一种在白血病中,白血病.骨髓质疏松性综合征/新生体儿科血液病理学

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