Acute megakaryoblastic leukemia in Down's syndrome: report of a case and review of cytogenetic findings.
Acute megakaryoblastic leukemia in Down's syndrome: report of a case and review of cytogenetic findings.
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唐氏综合症中的急性巨核细胞白血病：病例报告和细胞遗传学研究结果回顾。
DOI：
10.1002/mpo.2950130413
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发表时间：
1985
期刊：
影响因子：
--
通讯作者：
Rowley,JD
中科院分区：
文献类型：
--
作者：
Suarez,CR;LeBeau,MM;Silberman,S;Fresco,R;Rowley,JD
报告1例儿童21三体合并急性巨核细胞白血病。骨髓组织学检查显示进行性纤维化并被巨核母细胞取代。通过血小板过氧化物酶反应和抗凝血因子VIII免疫荧光染色证实了诊断。在疾病过程的不同阶段（白血病前期、白血病、缓解期和复发期）使用显带技术进行的系列细胞遗传学研究显示了几种染色体异常（1号和4号染色体之间的不平衡易位导致1q三体、7q三体、7p单体和10号和16号染色体之间的相互易位）。儿童期AMBL可能比以前报道的更常见。AMBL和特定细胞遗传学异常之间的任何关联必须等待进一步的细胞遗传学研究，特别是那些采用显带技术。
A case of a child with trisomy 21 and acute megakaryoblastic leukemia (AMBL) is reported. Histological examination of the bone marrow showed progressive fibrosis and replacement with megakaryoblasts. The diagnosis was confirmed by platelet peroxidase reaction and immunofluorescent staining with anti‐factor VIII. Serial cytogenetic studies using banding techniques at various stages during the course of the disease (preleukemia, leukemia, remission, and relapse) showed several chromosomal abnormalities (unbalanced translocation between chromosomes 1 and 4 leading to trisomy 1q, trisomy 7q, monosomy 7p, and a reciprocal translocation between chromosomes 10 and 16). AMBL in childhood is probably more common than previously reported. Any association between AMBL and a particular cytogenetic abnormality must await further cytogenetic studies, specifically those employing banding techniques.