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一名唐氏综合征婴儿短暂异常髓系造血消退后发生的骨髓增生异常综合征：不同的克隆起源？

Myelodysplastic syndrome after regression of transient abnormal myelopoiesis in a Down syndrome infant: different clonal origin?

作者信息

Kounami S, Aoyagi N, Tsuno H, Suzuki H, Kobayashi M, Koike M

机构信息

Department of Pediatrics, Wakayama Medical College, Japan.

出版信息

Cancer Genet Cytogenet. 1998 Jul 15;104(2):115-8. doi: 10.1016/s0165-4608(97)00457-3.

DOI:10.1016/s0165-4608(97)00457-3
PMID:9666804
Abstract

A boy with Down syndrome who developed myelodysplastic syndrome after regression of transient abnormal myelopoiesis (TAM) is described. His blast cells in TAM had other chromosome abnormalities in addition to trisomy 21;50,XY,+21c,+12,+14,+21. Serial chromosome analysis in follow-up showed abnormal clones involving monosomy 7. Myelodysplastic syndrome was diagnosed. Because two clones had different karyotypes, they might have derived from different clones.

摘要

本文描述了一名患有唐氏综合征的男孩，其在短暂异常髓系造血（TAM）消退后发展为骨髓增生异常综合征。他TAM期的原始细胞除了21三体外还有其他染色体异常；核型为50,XY,+21c,+12,+14,+21。随访中的系列染色体分析显示存在涉及7号染色体单体的异常克隆。诊断为骨髓增生异常综合征。由于两个克隆具有不同的核型，它们可能源自不同的克隆。

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