Jaju R J, Jones M, Boultwood J, Kelly S, Mason D Y, Wainscoat J S, Kearney L
Leukaemia Research Fund Molecular Haematology Unit, Clinical Laboratory Sciences, University of Oxford, John Radcliffe Hospital, Oxford, UK.
Genes Chromosomes Cancer. 2000 Nov;29(3):276-80. doi: 10.1002/1098-2264(2000)9999:9999<::aid-gcc1035>3.0.co;2-l.
The 5q- syndrome is a distinct subtype of myelodysplastic syndrome (MDS) characterized by refractory anemia, deletion of the long arm of chromosome 5, del(5q), as the sole cytogenetic abnormality, and a low frequency of transformation to acute leukemia. Using combined immunophenotyping and fluorescence in situ hybridization (FISH), studies were carried out on bone marrow smears of three 5q- syndrome cases to identify the cell lineages carrying the 5q deletion. In all three cases, the granulocytic, monocytic, and erythroid lineages possessed the del(5q) clonal marker, whereas the T-lymphocytes did not. Interestingly, in one case, cells of B-lymphoid lineage also showed the presence of the del(5q). This is the first report to date showing involvement of an acquired 5q deletion associated with MDS in B-cells. This result suggests that in some cases, MDS arises in a multipotent cell with a capacity to differentiate into both myeloid and lymphoid cells.
5q-综合征是骨髓增生异常综合征（MDS）的一种独特亚型，其特征为难治性贫血、5号染色体长臂缺失（del(5q)）作为唯一的细胞遗传学异常，以及转化为急性白血病的频率较低。利用联合免疫表型分析和荧光原位杂交（FISH）技术，对3例5q-综合征病例的骨髓涂片进行研究，以确定携带5q缺失的细胞谱系。在所有3例病例中，粒细胞、单核细胞和红系细胞谱系均具有del(5q)克隆标记，而T淋巴细胞则没有。有趣的是，在1例病例中，B淋巴细胞谱系的细胞也显示存在del(5q)。这是迄今为止首份显示与MDS相关的获得性5q缺失累及B细胞的报告。该结果表明，在某些情况下，MDS起源于具有分化为髓系和淋巴系细胞能力的多能细胞。
