儿童伴7号染色体单体的骨髓增生异常综合征：一项回顾性研究。

Myelodysplastic syndrome associated with monosomy 7 in childhood: a retrospective study.

作者信息

Aktas Dilek, Tuncbilek Ergul

机构信息

Department of Genetics, Hacettepe University School of Medicine, Ihsan Dogramaci Children's Hospital, Sihhiye, Ankara, Turkey.

出版信息

Cancer Genet Cytogenet. 2006 Nov;171(1):72-5. doi: 10.1016/j.cancergencyto.2006.06.010.

DOI:10.1016/j.cancergencyto.2006.06.010

PMID:17074595

Abstract

Myelodysplastic syndrome (MDS) is a clonal hematopoietic stem cell disorder characterized by ineffective hematopoiesis, peripheral cytopenia, and dysplastic changes in the bone marrow. Monosomy 7 or partial loss of 7q is a common cytogenetic abnormality in MDS patients and is associated with poor prognosis. This study examined eight patients with monosomy 7 and MDS. Five MDS patients with monosomy 7 progressed to acute leukemia: three cases transformed into acute myelogenous leukemia (AML) in a mean time of only 4.6 months and two cases into acute lymphoblastic leukemia (ALL) in a mean time of 9 months. To our knowledge, this is the first report showing progression of monosomy 7 associated with MDS to ALL in the childhood period.

摘要

骨髓增生异常综合征（MDS）是一种克隆性造血干细胞疾病，其特征为造血无效、外周血细胞减少以及骨髓发育异常改变。7号染色体单体或7q部分缺失是MDS患者常见的细胞遗传学异常，且与预后不良相关。本研究检测了8例7号染色体单体合并MDS的患者。5例7号染色体单体的MDS患者进展为急性白血病：3例平均仅在4.6个月内转化为急性髓系白血病（AML），2例平均在9个月内转化为急性淋巴细胞白血病（ALL）。据我们所知，这是首份显示儿童期7号染色体单体合并MDS进展为ALL的报告。