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慢性髓性白血病的临床病程、原始细胞特征与核型模式之间的相关性

Correlations between the clinical course, characteristics of blast cells, and karyotype patterns in chronic myeloid leukemia.

作者信息

Fleischman E W, Prigogina E L, Volkova M A, Frenkel M A, Zakhartchenko N A, Konstantinova L N, Puchkova G P, Balakirev S A

出版信息

Hum Genet. 1981;58(3):285-93. doi: 10.1007/BF00294925.

Abstract

Results of chromosome studies of blood and bone marrow cells from 101 patients with Ph1 positive chronic myeloid leukemia (CML) confirm the assumptions that clinical and morphologic manifestations of the disease correlate with karyotype peculiarities of leukemia cells. Several variants of the clinical course of CML may be distinguished. One is the variant with a short chronic phase and a comparatively long terminal phase. In blastic crisis the blast cells are peroxidase negative and do not possess cytoplasmic inclusions. Acute transformation occurs without any additional chromosome damage. The second, more common form is less severe because of longer chronic phase but it has a short and grave acute stage. The blast cells present definite signs of myeloid differentiation, they have basophilic or neutrophilic cytoplasmic granules and are peroxidase positive. Marker i(17q) often combined with trisomy 8 is a characteristic chromosome abnormality in the terminal stage of this variant. The third type has an extremely long chronic phase but ends in a rapidly progressing severe and resistant to therapy "lymphoid" blastic crisis. Blast cells have typical "lymphoid" morphology, they are peroxidase negative and contain granular PAS positive substance. Various additional chromosome changes appear in the terminal stage. Future studies of a larger series of patients may possibly reveal more CML variants.

摘要

对101例Ph1阳性慢性粒细胞白血病(CML)患者的血液和骨髓细胞进行染色体研究的结果证实了以下假设:该疾病的临床和形态学表现与白血病细胞的核型特征相关。CML临床病程的几种变体可以区分。一种是慢性期短而终末期相对长的变体。在急变期,原始细胞过氧化物酶阴性,且无细胞质内含物。急性转化发生时无任何额外的染色体损伤。第二种更常见的形式因慢性期较长而病情较轻,但急性期短且严重。原始细胞呈现明确的髓系分化迹象,有嗜碱性或嗜中性细胞质颗粒,且过氧化物酶阳性。标记染色体i(17q)常与三体8合并,是该变体终末期的特征性染色体异常。第三种类型有极长的慢性期,但最终会发展为进展迅速、严重且对治疗耐药的“淋巴细胞”急变期。原始细胞具有典型的“淋巴细胞”形态,过氧化物酶阴性,含有颗粒状PAS阳性物质。在终末期会出现各种额外的染色体变化。对更多患者进行的进一步研究可能会发现更多CML变体。

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