慢性髓系肿瘤的获得性椭圆细胞增多:与获得性红细胞膜蛋白和遗传异常的神秘关系

IF 2.1 4区 医学 Q3 HEMATOLOGY
Marshall A. Lichtman , Ronald Sham
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引用次数: 1

摘要

本文报告了41例与慢性髓系肿瘤相关的获得性红细胞椭圆细胞增多症的19例报告。尽管大多数病例有20号染色体长臂del(q20)异常,但也有少数病例没有。此外,在一个病例中,报告了红细胞蛋白带4.1(4.1R)的特异性定性异常;然而,随后的几个病例可能没有发现红细胞膜蛋白的异常,或者发现了不同的异常,通常是定量的。因此,在骨髓增生异常综合征和其他慢性骨髓增生性疾病中观察到的这种引人注目的红细胞表型特征,即获得性椭圆细胞增多症,密切模拟遗传性椭圆细胞增生症的红细胞表现型,具有无法解释的遗传基础,可能是某些慢性骨髓肿瘤中获得性突变的结果。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Acquired elliptocytosis in chronic myeloid neoplasms: An enigmatic relationship to acquired red cell membrane protein and genetic abnormalities

Nineteen reports of 41 cases of acquired red cell elliptocytosis associated with a chronic myeloid neoplasm are described. Although the majority of cases have an abnormality of the long arm of chromosome 20, del(q20), several cases do not. Moreover, in one case a specific qualitative abnormality of red cell protein band 4.1(4.1R) was reported; however, several subsequent cases could find no abnormality of a red cell membrane protein or found a different abnormality, usually quantitative. Thus, this striking red cell phenotypic feature, acquired elliptocytosis, seen in myelodysplastic syndrome and other chronic myeloproliferative diseases, closely simulating the red cell phenotype of hereditary elliptocytosis, has an unexplained genetic basis, presumably as the result of an acquired mutation(s) in some chronic myeloid neoplasms.

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来源期刊
CiteScore
4.90
自引率
0.00%
发文量
42
审稿时长
14 days
期刊介绍: Blood Cells, Molecules & Diseases emphasizes not only blood cells, but also covers the molecular basis of hematologic disease and studies of the diseases themselves. This is an invaluable resource to all those interested in the study of hematology, cell biology, immunology, and human genetics.
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