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伴有奥氏小体的急性髓系白血病中染色体异常的特征模式。

Characteristic patterns of chromosome abnormalities in acute myeloid leukemia with Auer rods.

作者信息

Billström R, Nilsson P G, Mitelman F

出版信息

Cancer Genet Cytogenet. 1987 Oct;28(2):191-9. doi: 10.1016/0165-4608(87)90205-6.

Abstract

Two hundred and four cytogenetically investigated patients with acute myeloid leukemia (AML) were evaluated for the presence (AR+) or absence (AR-) of Auer rods. Chromosome analysis was successful in 187 patients (92%). Seventy-eight patients (38%) were AR+. Cytogenetic abnormalities were detected in 35 (49%) AR+ patients and in 66 (57%) AR- patients. The proportion of patients with complex karyotypic changes (more than two aberrations) was significantly higher in the AR- group (p less than 0.01). Also, unidentifiable marker chromosomes were significantly more frequent in the AR- group (p less than 0.01). Twenty-one of 23 AR+, but none of 46 AR- patients with structural changes, had involvement of 21q22, 17q11-12, or 11p13-15. In contrast, structural changes of 1p, 5q, 7q, 9q, 11q, or 22q were present in 31 AR- but in only two AR+ patients. Four patients had translocations involving 21q22 without rearrangements of 8q22. All were AR+, but only one displayed M2 morphology. We draw the conclusion that chromosomal changes affecting 21q22 might be primarily related to AR formation, whereas, changes of 8q22 produce the characteristic differentiation pattern leading to M2 morphology, consistently found in AML with t(8;21)(q22;q22). With regard to numerical abnormalities, -7 and +8 occurred about equally often in the two groups, whereas, +11 and -Y, especially when present as the sole aberrations, were predominantly found in AR+ patients. In contrast, -5 and +21 were exclusively found in AR- patients. The results indicate that AR+ AML is characterized by a relatively limited number of chromosomal abnormalities that are different from the aberrations found in AR- patients. This feature has not been emphasized in previous studies correlating hematologic and cytogenetic findings in AML.

摘要

对204例接受细胞遗传学检查的急性髓系白血病(AML)患者评估奥氏小体的有无(AR+或AR-)。187例患者(92%)成功进行了染色体分析。78例患者(38%)为AR+。35例(49%)AR+患者和66例(57%)AR-患者检测到细胞遗传学异常。复杂核型改变(超过两个畸变)患者的比例在AR-组显著更高(p<0.01)。此外,不可识别的标记染色体在AR-组明显更常见(p<0.01)。23例有结构改变的AR+患者中有21例,但46例有结构改变的AR-患者中无一例有21q22、17q11-12或11p13-15受累。相反,1p、5q、7q、9q、11q或22q的结构改变在31例AR-患者中存在,但仅在2例AR+患者中存在。4例患者有涉及21q22的易位而无8q22重排。均为AR+,但仅1例表现为M2形态。我们得出结论,影响21q22的染色体改变可能主要与奥氏小体形成有关,而8q22的改变产生导致M2形态的特征性分化模式,在伴有t(8;21)(q22;q22)的AML中一致发现。关于数目异常,-7和+8在两组中出现频率大致相同,而+11和-Y,尤其是当作为唯一畸变出现时,主要见于AR+患者。相反,-5和+21仅见于AR-患者。结果表明,AR+ AML的特征是染色体异常数量相对有限,与AR-患者中发现的畸变不同。这一特征在先前将AML血液学和细胞遗传学结果相关联的研究中未得到强调。

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