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一个具有独特细胞遗传异常的先天性白血病患者的有利结果
Ravindran Ankathil1,2, Nazihah Mohd Yunus3, Wan Nur Amalina Zakaria4
1Department of Cytogenetics and Genomics, Jubilee Centre for Medical Research, Jubilee Mission Medical College and Research Institute, Thrissur, IND.
一个婴儿被诊断出患有先天性白血病,一种罕见的癌症. 尽管有不寻常的遗传发现,但她对化疗反应良好,存活了三年,突出了潜在的积极预后因素.
科学领域:
- 儿科血液学 儿科血液学
- 在瘤学瘤学.
- 遗传学 是一个遗传学.
背景情况:
- 先天性白血病 (CL) 是一种罕见的子宫内血性恶性瘤,预后不佳.
- 早期诊断和治疗对于改善新生儿癌症的结果至关重要.
研究的目的:
- 报告一种罕见的先天性B型急性淋巴细胞白血病病例,并具有复杂的细胞遗传异常.
- 研究先天性白血病中非典型遗传发现的预后意义.
- 为了突出在一个具有挑战性的案例中有利的治疗反应.
主要方法:
- 一个七天大的婴儿出现了暗示新生儿败血症的症状的病例报告.
- 诊断工作包括周围血液涂抹,骨髓活检,免疫类型和细胞遗传分析.
- 进行的治疗遵循了Interfant 06化疗方案.
主要成果:
- 这名患者被诊断为B型急性淋巴细胞白血病,其爆发细胞占90%.
- 一个不寻常的复杂型被确定为:46,XX,der(5) t(5;15)(p15;q15),del(7)(q33q35)/47,idem+,2.ish t(5;15)(wcp15+) +22(wcp22+).
- 患者实现了多次缓解,并在标准化疗中存活了三年多,尽管携带了del(7).
结论:
- 转位t(5;15)(p15;q15) 可能是先天性B型急性淋巴细胞白血病的有利预后因素.
- 在淋巴细胞疾病中del(7) 和三形22的作用需要进一步研究.
- 这一案例证明了先天性白血病与复杂细胞遗传学的有利结果,挑战了典型的预后假设.
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