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384名西班牙北部血液系统疾病患者的细胞遗传学模式

Cytogenetic patterns in 384 northern-Spanish patients with haematological disorders.

作者信息

Cigudosa J C, Calasanz M J, García Delgado M, Gullón A

机构信息

Department of Genetics, University of Navarra, Pamplona, Spain.

出版信息

Hereditas. 1993;118(1):79-85. doi: 10.1111/j.1601-5223.1993.t01-3-00079.x.

Abstract

During 1988-1991, we have conducted cytogenetic analysis in 384 consecutive patients with suspected neoplastic haematological diseases. A total of 404 samples were evaluated with banding techniques; 66 patients had myeloproliferative syndromes (MPS); 64, chronic myeloid leukaemia (CML); 50, acute nonlymphocytic leukaemia (ANLL); 40, myelodysplastic syndromes (MDS); 39, lymphoproliferative disorders (LPD); 37, acute lymphocytic leukaemia (ALL); 31 with non-Hodgkin lymphomas; and 57 patients had benign disorders. The frequencies and the type of detected chromosomal abnormalities were, in most diagnostic groups, within the limits of previous reports. For lymphomas, LPD, and MPS these frequencies were lower than expected. 144 cases (44.8%) of the 295 de novo diagnosed cases showed structural rearrangements. Breakpoints involved in structural rearrangements cluster to 35 bands of the standard 650-banded karyotype. We have observed eight cases with new chromosomal rearrangements.

摘要

在1988年至1991年期间,我们对384例连续的疑似血液系统肿瘤疾病患者进行了细胞遗传学分析。共使用显带技术评估了404份样本;66例患者患有骨髓增殖性综合征(MPS);64例为慢性髓性白血病(CML);50例为急性非淋巴细胞白血病(ANLL);40例为骨髓增生异常综合征(MDS);39例为淋巴细胞增殖性疾病(LPD);37例为急性淋巴细胞白血病(ALL);31例患有非霍奇金淋巴瘤;57例患者患有良性疾病。在大多数诊断组中,检测到的染色体异常的频率和类型在先前报告的范围内。对于淋巴瘤、LPD和MPS,这些频率低于预期。295例初诊病例中有144例(44.8%)显示结构重排。结构重排所涉及的断点聚集在标准650条带核型的35条带处。我们观察到8例新的染色体重排病例。

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