一名骨髓纤维化患者的多种染色体变化及核型演变

Multiple chromosomal changes and karyotypic evolution in a patient with myelofibrosis.

作者信息

Trautmann U, Rubbert A, Gramatzki M, Henschke F, Gebhart E

机构信息

Institute of Human Genetics, University of Erlangen-Nünberg, Germany.

出版信息

Cancer Genet Cytogenet. 1992 Jul 1;61(1):6-10. doi: 10.1016/0165-4608(92)90362-c.

DOI:10.1016/0165-4608(92)90362-c

PMID:1638481

Abstract

Several subclones were identified in unstimulated peripheral blood cells from a patient with chronic myeloproliferative disease, which was classified as myelofibrosis by morphologic terms. These subclones were characterized by an unusual number of different karyotype anomalies. Some of the more complex chromosomal rearrangements could be clearly defined by fluorescence in situ hybridization. Chromosome arms involved in clonal aberrations were 1q, 3p, 6p, 7q, 11q, 13q, 15q, 17q, 18p, and 20q. Reconstruction of karyotype evolution was attempted by karyotypic analysis of 100 metaphase spreads each in two separate investigations.

摘要

在一名慢性骨髓增殖性疾病患者未经刺激的外周血细胞中鉴定出几个亚克隆，根据形态学分类该疾病为骨髓纤维化。这些亚克隆的特征是存在数量异常的不同核型异常。一些更复杂的染色体重排可以通过荧光原位杂交清晰地界定。涉及克隆畸变的染色体臂为1q、3p、6p、7q、11q、13q、15q、17q、18p和20q。通过在两项独立研究中分别对100个中期分裂相进行核型分析，尝试重建核型进化。