呈现和长期的结果在马赛克三胞胎症21导致孤立的过渡性异常骨髓形成
Anna-Thérèse Mehra1, Monica H Wojcik1,2,3
1Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.
American journal of medical genetics. Part A
|February 25, 2025
概括
患有三形21 (T21) 的婴儿中过渡性异常骨髓形成 (TAM) 马赛克,局限于骨髓细胞系,可以在没有唐氏综合征特征的情况下呈现. 早期的化疗导致正常发育,这表明孤立的T21马赛克是可以管理的.
科学领域:
- 儿科 儿科 儿科
- 血液学 血液学 血液学
- 遗传学 是一个遗传学.
背景情况:
- 过渡性异常骨髓形成 (TAM) 是一种骨髓增殖性疾病,主要发生在患有三症21 (T21) 的婴儿身上.
- 一种不太常见的T21马赛克形式,涉及有或没有额外的染色体21的细胞混合.
- 典型的唐氏综合征 (DS) 特征可能在一些T21马赛克主义病例中缺席.
研究的目的:
- 报告一个新生儿缺乏典型的DS表型的T21马赛克和TAM病例.
- 为了研究孤立的骨髓状T21马赛克的临床过程和遗传基础.
- 对类似的案例和结果进行文献审查.
主要方法:
- 一个新生儿患有血液学异常和肝壮症的案例研究.
- 基因检测包括骨髓和淋巴细胞培养.
- 对25个类似案例的文献综述.
主要成果:
- 新生儿呈现TAM和T21马赛克,局限于髓状细胞系,由GATA1变异和RUNX1复制号证实.
- 淋巴细胞检测对T21呈阴性,这表明马赛克主义仅限于髓状细胞.
- 婴儿在TAM化疗后实现了正常的生长和发育.
结论:
- 分离到骨髓的T21马赛克可能不会导致系统性或神经发育性DS表现.
- 在骨髓特异性T21马赛克的背景下,TAM是可以治疗的,导致有利的结果.
- 早期诊断和管理对于非典型T21呈现的婴儿至关重要.
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