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骨髓增生异常综合征(MDS)患者的连续染色体研究。捷克斯洛伐克MDS合作组。

Consecutive chromosomal studies in patients with myelodysplastic syndrome (MDS). Czechoslovak MDS Cooperative Group.

作者信息

Michalova K, Musilova J, Zemanova Z

机构信息

Third Medical Department, First Medical Faculty, Charles University, Prague, Czechoslovakia.

出版信息

Ann Genet. 1991;34(3-4):212-8.

PMID:1809229
Abstract

In order to detect a possible relationship between clonal chromosomal abnormalities acquired during the course of the disease and its prognosis in patients with myelodysplastic syndrome (MDS) the authors have performed consecutive analyses in 77 patients with this disease. They were part of the large series of 209 patients cytogenetically examined during the last ten years. According to the cytogenetic findings we have distinguished three groups: 1) sixteen patients who has a normal karyotype in bone marrow cells at the beginning of the investigation and this finding remained unchanged during the course of the disease. Three of them progressed into acute leukemia (AL) without any detectable change in the chromosomal complement of the bone marrow cells; 2) twenty-five patients who had at the beginning of the study, different pathological chromosomal clones in bone marrow cells. There was no chromosomal evolution detectable during the disease; eight of them progressed into acute leukemia; 3) thirty-six patients who had either normal or pathological chromosomal findings at the first examination and in whom further clonal abnormalities had developed during the course of the disease. Twelve of them progressed into acute leukemia. Two to nine cytogenetic examinations were successfully performed with a mean of three studies per patient. The results confirmed strictly individual development of chromosomal abnormalities during the course of the disease, with an unfavorable prognosis for the patients with complex chromosomal changes. Three patients with del 7q had very poor prognosis with rapid progression of the disease. Two cases with the same acquired abnormalities (del 20q, +8, -22) transformed into acute leukemia within the period of 36 months from the onset of the disease.

摘要

为了检测骨髓增生异常综合征(MDS)患者在疾病过程中获得的克隆性染色体异常与其预后之间可能存在的关系,作者对77例该疾病患者进行了连续分析。他们是过去十年中接受细胞遗传学检查的209例患者中的一部分。根据细胞遗传学结果,我们区分出三组:1)16例患者在研究开始时骨髓细胞的核型正常,且这一结果在疾病过程中保持不变。其中3例进展为急性白血病(AL),而骨髓细胞的染色体组成没有任何可检测到的变化;2)25例患者在研究开始时骨髓细胞中有不同的病理性染色体克隆。在疾病过程中未检测到染色体演变;其中8例进展为急性白血病;3)36例患者在首次检查时染色体结果正常或异常,且在疾病过程中出现了进一步的克隆性异常。其中12例进展为急性白血病。成功进行了2至9次细胞遗传学检查,每位患者平均进行3次检查。结果证实了疾病过程中染色体异常的严格个体发展情况,染色体变化复杂的患者预后不良。3例7号染色体长臂缺失(del 7q)的患者预后极差,疾病进展迅速。2例具有相同获得性异常(20号染色体长臂缺失、+8、-22)的患者在疾病发作后的36个月内转化为急性白血病。

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