急性髓细胞白血病和慢性髓细胞白血病急变期的基因型和细胞遗传学研究：特异性δ重排模式不涉及Jδ基因座。

Genotypic and cytogenetic study of acute myelocytic leukemia and chronic myelocytic leukemia in blast crisis: specific delta rearrangement pattern does not involve J delta gene locus.

作者信息

Akiyoshi T T, Kimura N, Uike N, Kozuru M, Tamura K, Takihara Y, Hisano S, Nishimura J, Kikuchi M

机构信息

First Department of Internal Medicine, Fukuoka University School of Medicine, Japan.

出版信息

Leuk Res. 1991;15(8):683-91. doi: 10.1016/0145-2126(91)90070-a.

DOI:10.1016/0145-2126(91)90070-a

PMID:1654480

Abstract

We have analysed the configuration of immunoassociated genes and the karyotypes of 30 patients with acute myelocytic leukemia (AML) and 10 with chronic myelocytic leukemia in blast crisis (CML-BC). In AML, the frequencies of T-cell receptor (TcR) beta, gamma, and delta chain and immunoglobulin heavy and light chain gene rearrangements were 4.2%, 19%, 8%, 10.7% and 10.5%, respectively. In CML-BC, they were 10%, 20%, 40%, 50% and 0%, respectively. Nine patients had abnormalities in chromosome 2, 7 or 14, upon which immunoassociated genes are located. There seems to be no apparent relationship between these chromosome abnormalities and gene rearrangements. In all patients but one (5/6), the delta rearrangement was accompanied by other immunoassociated gene rearrangements. Molecular size analysis revealed specific delta rearranged band(s) (19.5 kb-BamHI and/or 6.9 kb-EcoRI), as commonly detected in B-acute lymphocytic leukemia (ALL). All the patients with the delta rearranged band, however, had a germline configuration of J delta gene loci, suggesting a DD or V(D)D (probably V delta 2(D)D) pattern. This study also indicates that the delta rearrangement is specific in AML or CML-BC and distinct from that in early T leukemia/lymphoma.

摘要

我们分析了30例急性髓细胞白血病（AML）患者和10例慢性髓细胞白血病急变期（CML-BC）患者的免疫相关基因构型和核型。在AML中，T细胞受体（TcR）β、γ和δ链以及免疫球蛋白重链和轻链基因重排的频率分别为4.2%、19%、8%、10.7%和10.5%。在CML-BC中，它们分别为10%、20%、40%、50%和0%。9例患者在2号、7号或14号染色体上存在异常，而免疫相关基因位于这些染色体上。这些染色体异常与基因重排之间似乎没有明显关系。在除1例患者外的所有患者中（5/6），δ重排伴有其他免疫相关基因重排。分子大小分析显示出特定的δ重排条带（19.5 kb-BamHI和/或6.9 kb-EcoRI），这在B急性淋巴细胞白血病（ALL）中常见。然而，所有具有δ重排条带的患者Jδ基因座均为种系构型，提示为DD或V(D)D（可能是Vδ2(D)D）模式。本研究还表明，δ重排在AML或CML-BC中具有特异性，且与早期T白血病/淋巴瘤中的不同。