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与7号染色体长臂等臂异常相关的短暂性骨髓增生异常综合征

Transient myelodysplastic syndrome associated with isochromosome 7q abnormality.

作者信息

Leung Elaine W, Woodman Richard C, Roland Birgitte, Abdelhaleem Mohamed, Freedman Melvin H, Dror Yigal

机构信息

Department of Paediatrics, Division of Haematology/Oncology, The Hospital for Sick Children, Toronto, Ontario, Canada.

出版信息

Pediatr Hematol Oncol. 2003 Oct-Nov;20(7):539-45. doi: 10.1080/08880010390232754.

Abstract

Myelodysplastic syndrome (MDS) in childhood is a rare hematological condition that is often associated with cytogenetic abnormalities, the most common being monosomy 7/del(7q). The clinical course of MDS can vary from stable disease to rapid progression into acute leukemia. Rarely, spontaneous remission of MDS has been observed. The authors report the first case of a transient MDS associated with a clonal marrow cytogenetic abnormality consisting of isochromosome 7q in a previously well child. Without intervention, the bone marrow cytogenetics reverted to normal and there was complete hematologic recovery. This case illustrates the importance of close follow-up in a child presenting with MDS, to detect spontaneous recovery or evolution of the disease.

摘要

儿童骨髓增生异常综合征(MDS)是一种罕见的血液系统疾病,常与细胞遗传学异常相关,最常见的是7号染色体单体/7号染色体长臂缺失(del(7q))。MDS的临床病程差异较大,可从病情稳定到迅速进展为急性白血病。很少有MDS自发缓解的报道。作者报告了首例与克隆性骨髓细胞遗传学异常相关的短暂性MDS病例,该异常表现为7号染色体长臂等臂染色体,患儿此前身体健康。未经干预,骨髓细胞遗传学恢复正常,血液学完全恢复。该病例说明了对MDS患儿进行密切随访以发现疾病自发缓解或进展的重要性。

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