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1例骨髓中存在近单倍体、近二倍体和多倍体细胞的恶性肥大细胞增多症。

A case of malignant mastocytosis with near-haploid, near-diploid, and polyploid cells in the bone marrow.

作者信息

Bauchinger M, Mezger J

机构信息

Institut für Strahlenbiologie, GSF, Neuherberg/München, F.R.G.

出版信息

Cancer Genet Cytogenet. 1990 Aug 1;48(1):13-21. doi: 10.1016/0165-4608(90)90210-2.

Abstract

Chromosome analysis in bone marrow cells of a 41-year-old woman with malignant mastocytosis (MM) revealed near-haploid (59%), near-diploid (36%), and polyploid (5%) cells. Near-haploid cells had a mode of 25 chromosomes with variable disomy and nullisomy of particular chromosomes. Disomy for chromosome 19 and chromosome 20 were most common. A 17p+ marker was observed in all cells. Other structural chromosomal changes were dicentrics, ring chromosomes, translocations, and double minutes. The modal chromosome number in near-diploid cells was 46 with a range of 41-52. The majority of cells with 46 chromosomes were pseudodiploid and only a few had a normal female karyotype. As in near-haploid cells, various structural chromosomal changes were found. The 17p+ marker was also present in occasional cells suggesting a relationship between the two tumor cell populations. Chromosome numbers in polyploid cells ranged from 70 to about 600. Identical copies of dicentrics or markers were identified in some cells.

摘要

对一名41岁恶性肥大细胞增多症(MM)女性患者的骨髓细胞进行染色体分析,发现存在近单倍体(59%)、近二倍体(36%)和多倍体(5%)细胞。近单倍体细胞的染色体众数为25条,特定染色体存在可变的二体性和缺体性。19号和20号染色体的二体性最为常见。在所有细胞中均观察到17p+标记。其他染色体结构改变包括双着丝粒、环状染色体、易位和双微体。近二倍体细胞的染色体众数为46条,范围为41 - 52条。大多数46条染色体的细胞为假二倍体,只有少数具有正常女性核型。与近单倍体细胞一样,发现了各种染色体结构改变。偶尔也有细胞存在17p+标记,提示这两种肿瘤细胞群体之间存在关联。多倍体细胞的染色体数范围为70至约600条。在一些细胞中鉴定出双着丝粒或标记的相同拷贝。

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