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骨髓增生异常综合征的克隆分析:通过荧光原位杂交检测发现,7号染色体单体在髓系中表达,但在淋巴系中不表达。

Clonal analysis of myelodysplastic syndrome: monosomy 7 is expressed in the myeloid lineage, but not in the lymphoid lineage as detected by fluorescent in situ hybridization.

作者信息

Gerritsen W R, Donohue J, Bauman J, Jhanwar S C, Kernan N A, Castro-Malaspina H, O'Reilly R J, Bourhis J H

机构信息

Department of Pediatrics, Memorial Sloan-Kettering Cancer Center, New York, NY 10021.

出版信息

Blood. 1992 Jul 1;80(1):217-24.

PMID:1611087
Abstract

Conflicting results have been published on whether or not myelodysplastic syndromes (MDS) affect all cell lineages. Involvement of myeloid and erythroid cell lineages has been regularly observed, but it remains controversial whether the different lymphoid cell lineages are involved. In this study of eight patients with MDS associated with monosomy 7, fluorescent in situ hybridization (FISH) was used to enumerate the chromosomes 7 in interphase cells. With the probe D7Z1, the rate of false-positive detection of monosomy 7 was 3% +/- 2% in normal cells. T- and B-cell lines were established from eight patients with MDS and monosomy 7. As determined by FISH in interphase cells, 1.9% (0% to 3%) of the cells in the B-cell lines showed one fluorescent spot and 1.1% (0% to 2.9%) of the cells in the T-cell lines. These values do not differ from normal values. However, the possibility that normal cells were selected when the T- and B-cell lines were established could not be excluded. Therefore, peripheral blood cells were obtained, separated according to surface markers specific for lymphoid and myeloid cell lineage with a cell sorter, and analyzed for the expression of monosomy 7 by FISH. Antibodies recognizing T cells (CD3), B cells (CD20), natural killer (NK) cells (CD57), monocytes and granulocytes (low and high expression of CD11b antigen), and myeloid progenitors (CD33) were used to separate cells. The expression of monosomy 7 in the T cells, NK cells, and B cells did not differ from control values. These results in the lymphoid subpopulations are in stark contrast with the observations in the myeloid populations; the percentage of cells with monosomy 7 ranged from 9% to 78% (controls: 6% +/- 2%) in cells with low CD11b expression, 20% to 89% in cells with a high expression of the CD11b antigen (controls: 7% +/- 3%), and 23% to 91% in the CD33 positive cells (controls: 5% +/- 3%). The results of this study suggest that monosomy 7 does not usually affect lymphoid subpopulations but is restricted to committed progenitor cells with the capacity to differentiate into mature myeloid cells.

摘要

关于骨髓增生异常综合征(MDS)是否会影响所有细胞谱系,已发表了相互矛盾的结果。骨髓和红细胞谱系的受累情况已被经常观察到,但不同的淋巴细胞谱系是否受累仍存在争议。在这项对8例伴有7号染色体单体的MDS患者的研究中,荧光原位杂交(FISH)被用于计数间期细胞中的7号染色体。使用探针D7Z1,正常细胞中7号染色体单体的假阳性检测率为3%±2%。从8例伴有7号染色体单体的MDS患者中建立了T细胞系和B细胞系。通过间期细胞的FISH检测,B细胞系中1.9%(0%至3%)的细胞显示一个荧光点,T细胞系中1.1%(0%至2.9%)的细胞显示一个荧光点。这些值与正常值没有差异。然而,不能排除在建立T细胞系和B细胞系时选择了正常细胞的可能性。因此,获取外周血细胞,用细胞分选仪根据淋巴细胞和髓细胞谱系特异性的表面标志物进行分离,并用FISH分析7号染色体单体的表达情况。使用识别T细胞(CD3)、B细胞(CD20)、自然杀伤(NK)细胞(CD57)、单核细胞和粒细胞(CD11b抗原的低表达和高表达)以及髓系祖细胞(CD33)的抗体来分离细胞。T细胞、NK细胞和B细胞中7号染色体单体的表达与对照值没有差异。这些淋巴细胞亚群的结果与髓细胞群体的观察结果形成鲜明对比;在CD11b低表达的细胞中,7号染色体单体的细胞百分比为9%至78%(对照组:6%±2%),在CD11b抗原高表达的细胞中为20%至89%(对照组:7%±3%),在CD33阳性细胞中为23%至91%(对照组:5%±3%)。这项研究的结果表明,7号染色体单体通常不会影响淋巴细胞亚群,而是局限于具有分化为成熟髓细胞能力的定向祖细胞。

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