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非淋巴细胞白血病患儿的骨髓核型

Bone marrow karyotypes of children with nonlymphocytic leukemia.

作者信息

Hagemeijer A, van Zanen G E, Smit E M, Hählen K

出版信息

Pediatr Res. 1979 Nov;13(11):1247-54. doi: 10.1203/00006450-197911000-00009.

Abstract

Bone marrow (BM) karyotypes from 16 consecutive children presenting with nonlymphocytic leukemia were established with the use of banding techniques, before therapy. The two patients with chronic myeloid leukemia (CML) showed the Philadelphia (Ph1) translocation (9q+;22q-). Five of the 14 patients with an acute nonlymphocytic leukemia (ANLL) presented no acquired cytogenetic abnormalities, but one of these five showed a high level of hypodiploidy. One patient with AML evidenced a variant of the Ph1 chromosome originated as a translocation (12p+;22q-). Nonrandom abnormalities (-7; 7q-; +8; t(8;21); -21) were found in six patients, isolated or in association with otheraberrations. Among the random abnormalities, apparently balanced translocations and chromosomal deletions were observed. In ANLL, no correlation could be found between morphologic diagnosis and cytogenetic findings. On the other hand, the presence of BM cells with a normal karyotype at diagnosis was associated with an improved remission rate and survival time. Followup studies were performed in four ANLL patients with an abnormal cell clone at diagnosis. Three of them achieved hematologic remission; their BM karyotype was found to be normal at that stage. In the 4th patient, generalization of the abnormal karyotype in BM cells was seen in the terminal phase of the disease.

摘要

对16例初诊时患非淋巴细胞白血病的儿童,在治疗前采用显带技术确定其骨髓核型。2例慢性髓性白血病(CML)患者显示费城(Ph1)易位(9q+;22q-)。14例急性非淋巴细胞白血病(ANLL)患者中有5例未发现获得性细胞遗传学异常,但这5例中的1例显示高度亚二倍体。1例急性髓性白血病(AML)患者证实存在一种起源于易位(12p+;22q-)的Ph1染色体变异型。在6例患者中发现了非随机异常(-7;7q-;+8;t(8;21);-21),这些异常单独出现或与其他畸变同时出现。在随机异常中,观察到明显平衡的易位和染色体缺失。在ANLL中,形态学诊断与细胞遗传学结果之间未发现相关性。另一方面,诊断时骨髓细胞核型正常与缓解率提高和生存时间延长相关。对4例诊断时细胞克隆异常的ANLL患者进行了随访研究。其中3例获得血液学缓解;此时发现他们的骨髓核型正常。在第4例患者中,疾病终末期可见骨髓细胞异常核型的播散。

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