10儿童骨髓增生性疾病

PhD, FRCP, FRCPath Finbarr E. Cotter (Reader in Haematology and Oncology)
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引用次数: 4

摘要

被归类为小儿骨髓增殖性疾病(MPD)的疾病,如青少年慢性髓性白血病(JCML)和小儿骨髓增生异常综合征(MDS),本质上是以异常骨髓增生为特征的疾病,它们在7号染色体上具有相似的遗传事件。因此,儿童髓细胞增生异常(AIMC)应在同一标题下考虑。体质和其他遗传因素在儿童中起着至关重要的作用,其中包括NF1基因,而接触有毒物质在成人中更为重要。最常见的细胞遗传学改变是单体或7号染色体长臂的缺失。通过荧光原位杂交(FISH)鉴定和绘制了关键区域。这似乎涉及到7号染色体上类似的关键区域,并提示这些区域可能包含在AIMC发病机制中重要的基因。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
10 Childhood myeloproliferative disorders

Disorders classified as paediatric myeloproliferative disorders (MPD), such as juvenile chronic myeloid leukaemia (JCML), and as paediatric myelodysplastic syndrome (MDS), are essentially diseases characterized by abnormal myeloproliferation and they share similar genetic events on chromosome 7. As such, the abnormalities of increased myeloproliferation in childhood (AIMC) should be considered under the same heading. Constitutional and other genetic factors play an essential role in children and include the NF1 gene, whereas toxic exposure is of greater importance in adults. The most common cytogenetic alteration is that of monosomy or deletion of the long arm of chromosome 7. Critical regions have been identified and mapped by fluorescence in situ hybridization (FISH). It appears that the similar critical regions on chromosome 7 are involved, and suggests that these regions may contain genes important in the pathogenesis of AIMC.

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