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儿童高倍体急性淋巴细胞白血病的表型和核型特征

Phenotypic and karyotypic properties of hyperdiploid acute lymphoblastic leukaemia of childhood.

作者信息

Smets L A, Slater R M, Behrendt H, Van't Veer M B, Homan-Blok J

出版信息

Br J Haematol. 1985 Sep;61(1):113-23. doi: 10.1111/j.1365-2141.1985.tb04066.x.

Abstract

The DNA/cell content was measured by flow cytometry in samples obtained from 98 unselected children with acute lymphocytic leukaemia (ALL) at diagnosis. The frequency of anomalies in modal DNA content was compared to that encountered in acute childhood non-lymphocytic leukaemia (ANLL) and disseminated non-Hodgkin's lymphoma (NHL). In ALL the most frequent (35%) aberration in DNA content was an increase by 20% relative to the modal value of normal white blood cells. This subcategory, referred to as hyperdiploid ALL (HD-ALL), was characterized by a close association with the expression of the c-ALL surface marker (20/20 patients) and characteristic numerical chromosome changes, including tri- or tetrasomy of chromosome 21. Moreover, patients with hyperdiploid ALL had a much lower peripheral leucocyte count (P = 0.001) than those with diploid disease and a varying proportion of their leukaemic cells existed in the peripheral blood as morphologically normal lymphocytes expressing the c-ALL antigen. Within the standard risk category, patients with HD-ALL had a longer disease-free survival than those with diploid disease (P = 0.058). It is concluded that routine analysis by flow cytometry can conveniently and consistently detect ALL patients with hyperdiploid chromosome numbers. Hyperdiploid ALL constitutes a fairly large subtype of childhood ALL with specific biological and karyotypic properties, possibly associated with favourable prognosis.

摘要

通过流式细胞术对98例未经挑选的急性淋巴细胞白血病(ALL)患儿诊断时获取的样本进行DNA/细胞含量测定。将DNA含量模式异常的频率与儿童急性非淋巴细胞白血病(ANLL)和播散性非霍奇金淋巴瘤(NHL)中的情况进行比较。在ALL中,最常见的(35%)DNA含量异常是相对于正常白细胞模式值增加20%。这一亚类被称为超二倍体ALL(HD-ALL),其特征是与c-ALL表面标志物的表达密切相关(20/20例患者)以及特征性的染色体数目变化,包括21号染色体三体或四体。此外,超二倍体ALL患者的外周血白细胞计数比二倍体疾病患者低得多(P = 0.001),并且其白血病细胞中有不同比例以形态学上正常的表达c-ALL抗原的淋巴细胞形式存在于外周血中。在标准风险类别中,HD-ALL患者的无病生存期比二倍体疾病患者长(P = 0.058)。结论是,通过流式细胞术进行常规分析能够方便且一致地检测出染色体数目为超二倍体的ALL患者。超二倍体ALL构成儿童ALL中一个相当大的亚型,具有特定的生物学和核型特征,可能与预后良好相关。

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