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6例红白血病患者的细胞遗传学和临床评估。

Cytogenetic and clinical assessment of six patients with erythroleukemia.

作者信息

Trent J M, Durie B G, Davis J R, Veomett I

出版信息

Anticancer Res. 1983 Mar-Apr;3(2):111-6.

PMID:6573867
Abstract

We report the detailed karyotypic analysis and clinical features of six patients with erythroleukemia (EL). Five of six patients studied displayed substantial numeric and structural chromosome abnormalities. The most common alterations in these patients were monosomy for chromosome 7 and 16. All five patients displaying chromosomal abnormalities presented with 100 percent abnormal metaphases in their bone marrow at the time of initial diagnosis. The remaining patient was studied only during remission and had a normal diploid karyotype in all marrow cells analyzed. No patient in this study had either a Ph1 -chromosome (characteristic of CML), or translocations of chromosome #8-#21 (characteristic of AML-M2). Clinically, all but one patient had a brief history; the exception having had polycythemia rubra vera for 18 years prior to the onset of EL. All patients were treated with current Southwest Oncology Group (SWOG) protocols using cytosine arabinoside and anthracycline combinations. Three of five patients entered complete remission. However, remission durations were short (approximately six months) and median survival just over one year. Cytogenetic analysis of three patients in hematologic remission revealed persistence of chromosomal alterations. It is suggested that such remissions be reclassified as partial rather than complete based upon the cytogenetic information.

摘要

我们报告了6例红白血病(EL)患者的详细核型分析及临床特征。6例研究患者中有5例表现出显著的数目和结构染色体异常。这些患者最常见的改变是7号和16号染色体单体。所有5例表现出染色体异常的患者在初诊时骨髓中期分裂相100%异常。其余1例患者仅在缓解期接受研究,所有分析的骨髓细胞均具有正常的二倍体核型。本研究中没有患者有Ph1染色体(慢性粒细胞白血病的特征)或8号-21号染色体易位(急性髓系白血病M2型的特征)。临床上,除1例患者外,所有患者病程均较短;例外的这例患者在红白血病发病前患有真性红细胞增多症18年。所有患者均按照西南肿瘤协作组(SWOG)目前的方案,使用阿糖胞苷和蒽环类药物联合治疗。5例患者中有3例进入完全缓解期。然而,缓解期较短(约6个月),中位生存期仅略超过1年。对3例血液学缓解患者的细胞遗传学分析显示染色体改变持续存在。基于细胞遗传学信息,建议将此类缓解重新分类为部分缓解而非完全缓解。

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引用本文的文献

1
Genetic markers on chromosome 7.7号染色体上的遗传标记。
J Med Genet. 1988 May;25(5):294-306. doi: 10.1136/jmg.25.5.294.