伴有巨核细胞增殖的骨髓增生异常综合征中的3号与4号染色体易位t(3;4)(q26;q21)

Translocation t(3;4)(q26;q21) in myelodysplastic syndrome with megakaryoblastic proliferation.

作者信息

Ohyashiki K, Enomoto Y, Watanabe Y, Nehashi Y, Ohyashiki J H, Toyama K

机构信息

Department of Internal Medicine, Tokyo Medical College, Japan.

出版信息

Cancer Genet Cytogenet. 1988 Aug;34(1):5-9. doi: 10.1016/0165-4608(88)90160-4.

DOI:10.1016/0165-4608(88)90160-4

PMID:3395994

Abstract

A 74-year-old Japanese male with a 4-year history of refractory anemia with excess of blasts is reported here. Chromosome study revealed the bone marrow cells of this patient to contain a t(3;4)(q26;q21). Ultrastructural analysis of platelet peroxidase and immunocytochemical study using monoclonal antibody for platelet antigen revealed a large number of blasts in the bone marrow to be megakaryoblasts. Thus, this case was thought to be one of a myelodysplastic syndrome with excess of blasts including megakaryoblastic proliferation showing chromosome changes at 3q26 and 4q21. The relationship of the anomaly on the long arm of a chromosome #3, especially at band 3q26, to abnormal megakaryoblastic proliferation is discussed.

摘要

本文报道了一名74岁的日本男性，患有伴原始细胞增多的难治性贫血，病程4年。染色体研究显示该患者的骨髓细胞含有t(3;4)(q26;q21)。血小板过氧化物酶的超微结构分析以及使用血小板抗原单克隆抗体的免疫细胞化学研究表明，骨髓中的大量原始细胞为巨核细胞。因此，该病例被认为是伴原始细胞增多的骨髓增生异常综合征之一，包括巨核细胞增殖并伴有3q26和4q21染色体改变。本文讨论了3号染色体长臂上的异常，尤其是3q26带，与异常巨核细胞增殖之间的关系。