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[原发性骨髓增生异常综合征患者的细胞遗传学发现及其预后意义。(65例患者结果分析)]

[Cytogenetic findings in patients with primary myelodysplastic syndrome and their prognostic significance. (Analysis of results in 65 patients)].

作者信息

Indrák K, Jarosová M, Sulovská I, Scudla V, Hubácek J, Sousková I, Bĕhal K, Svobodová M

机构信息

Hematologická klinika FN a LP UP Olomouc.

出版信息

Vnitr Lek. 1994 Sep;40(9):577-85.

PMID:7975361
Abstract

Cytogenetic examination of 65 patients with primary MDS revealed cytogenetic changes in 39 (60%) of the patients. The most frequently affected chromosomes were chromosomes 5, 7, 11, 17 and 20. Deletion of 5q only found in 9 (23%) of the patients with chromosomal changes occurred similarly as simple chromosomal changes most frequently in the prognostically more favourable group MDS-RA. Prognostically adverse monosomy of chromosome 7 was found in 3 patients in group RAEB and RAEB-t but only as part of complex chromosomal changes. The latter were encountered most frequently in patients of groups RAEB and RAEB-t, similarly as trisomy of chromosome 8. Patients in these groups had also a significantly shorter survival time (RAEB 17.7 and RAEB-t 14.2 months) than patients in group MDS-RA (31.5 months). Evaluation of survival according to Kaplan-Meyer's curve revealed significantly longer survival of patients without cytogenetic changes. Laboratory, cytogenetic and clinical findings in four patients with CMML differed from findings of the remaining patients with MDS. This supports the view that this sub-group is rather a myoproliferative conditions than MDS. Transformation to AL was proved in 19 patients. 14 of them (74%) had a chromosomal change at the time of diagnosis.

摘要

对65例原发性骨髓增生异常综合征患者进行细胞遗传学检查,结果显示39例(60%)患者存在细胞遗传学改变。最常受累的染色体是5号、7号、11号、17号和20号染色体。仅5q缺失在9例(23%)有染色体改变的患者中发现,其发生情况与单纯染色体改变相似,最常见于预后较有利的骨髓增生异常综合征-难治性贫血(MDS-RA)组。在难治性贫血伴原始细胞过多(RAEB)和难治性贫血伴原始细胞过多转变型(RAEB-t)组中有3例患者发现预后不良的7号染色体单体,但仅作为复杂染色体改变的一部分。后者在RAEB和RAEB-t组患者中最常见,8号染色体三体情况也相似。这些组的患者生存时间(RAEB为17.7个月,RAEB-t为14.2个月)也明显短于MDS-RA组患者(31.5个月)。根据Kaplan-Meyer曲线评估生存情况显示,无细胞遗传学改变的患者生存时间明显更长。4例慢性粒-单核细胞白血病(CMML)患者的实验室、细胞遗传学和临床 findings与其余骨髓增生异常综合征患者的 findings不同。这支持了这样一种观点,即这个亚组更像是一种骨髓增殖性疾病而非骨髓增生异常综合征。19例患者被证实发生了向急性白血病(AL)的转化。其中14例(74%)在诊断时存在染色体改变。

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