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华氏巨球蛋白血症中的染色体异常。

Chromosomal abnormalities in Waldenström's macroglobulinemia.

作者信息

Carbone P, Caradonna F, Granata G, Marcenò R, Cavallaro A M, Barbata G

机构信息

Dipartimento di Biologia Cellulare e dello Sviluppo A. Monroy, Università di Palermo, Italy.

出版信息

Cancer Genet Cytogenet. 1992 Jul 15;61(2):147-51. doi: 10.1016/0165-4608(92)90078-m.

Abstract

We report the results of cytogenetic studies of direct bone marrow (BM) preparations and of short-term BM and peripheral blood (PB) cultures from 17 patients with Waldenström's macroglobulinemia. We noted clonal chromosome changes in 10 patients. Abnormalities affected chromosomes X, Y, 2, 4, 5, 15, 16, 18, 19, 20, 21, and 22; in particular, chromosomes 2, 4, and 5 were involved in structural changes: a homogeneously staining region [hsr(2)], a der(4)t(4;?)(q32;?), and a 5q+. The other chromosomes were involved in numerical abnormalities, such as pseudodiploidy (a 46,X, -X, + 15 clone), loss of chromosome Y, and monosomy of chromosomes 16, 18, 19, 20, 21, and 22. Nonclonal chromosome rearrangements were also observed. The results are discussed in comparison with the few data reported in the literature, and the finding of an hsr in the long arm of chromosome 2 is emphasized; indeed, this is the first report of hsr in WM.

摘要

我们报告了对17例华氏巨球蛋白血症患者的直接骨髓(BM)涂片以及短期BM和外周血(PB)培养物进行细胞遗传学研究的结果。我们在10例患者中发现了克隆性染色体改变。异常涉及X、Y、2、4、5、15、16、18、19、20、21和22号染色体;特别是,2、4和5号染色体发生了结构改变:一个均匀染色区[hsr(2)]、一个der(4)t(4;?)(q32;?)和一个5q+。其他染色体则出现了数目异常,如假二倍体(一个46,X, -X, + 15克隆)、Y染色体丢失以及16、18、19、20、21和22号染色体单体性。还观察到了非克隆性染色体重排。我们将这些结果与文献中报道的少量数据进行了比较讨论,并强调了在2号染色体长臂上发现均匀染色区这一情况;实际上,这是华氏巨球蛋白血症中均匀染色区的首次报道。

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