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21例多发性骨髓瘤和浆细胞白血病患者中14q32.3和19p13.3的非随机染色体重排以及1p的优先缺失。

Nonrandom chromosomal rearrangements of 14q32.3 and 19p13.3 and preferential deletion of 1p in 21 patients with multiple myeloma and plasma cell leukemia.

作者信息

Taniwaki M, Nishida K, Takashima T, Nakagawa H, Fujii H, Tamaki T, Shimazaki C, Horiike S, Misawa S, Abe T

机构信息

Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Japan.

出版信息

Blood. 1994 Oct 1;84(7):2283-90.

PMID:7919347
Abstract

Structural chromosomal abnormalities and their break-points were characterized in 17 patients with multiple myeloma (MM) and 4 with plasma cell leukemia by banding. Chromosome 14q32 translocations with a variety of partners were detected in 13 patients, and a variant translocation t(8;22)(q24.1;q11) was detected in 1. Three recurrent 14q32 translocations have been identified: t(6;14)(p21.1;q32.3) occurring in 3 cases, and t(11;14)(q13;q32.3) and t(14;18) (q32.3;q21.3) each occurring in 2 cases. Translocations t(1;14)(q21;q32.3), t(3;14)(p11;q32),t(7;14)(q11.2;q32.3), and t(11;14)(q23;q32.3) were found in each patient, whereas in the remaining 2 patients, partner chromosomes could not be determined. The band 19p13.3 was newly delineated as a recurrent breakpoint involved in translocations in MM. Chromosomes 1 and 6 were also commonly involved in structural abnormalities (14 and 10 patients, respectively), although no particular bands were noted. However, the short arm of chromosome 1 was preferentially involved in deletion, suggesting a certain antioncogene on 1p associated with the development of myeloma. In addition; fluorescence in situ hybridization was successfully applied to determine the nature of the structural abnormalities in a patient with t(8;22) translocation. The present findings suggest that there may be subsets of 14q32 translocations specific to MM.

摘要

通过显带技术对17例多发性骨髓瘤(MM)患者和4例浆细胞白血病患者的染色体结构异常及其断裂点进行了特征分析。在13例患者中检测到14号染色体长臂(14q32)与多种伙伴染色体的易位,1例患者检测到变异易位t(8;22)(q24.1;q11)。已鉴定出三种常见的14q32易位:t(6;14)(p21.1;q32.3)发生3例,t(11;14)(q13;q32.3)和t(14;18)(q32.3;q21.3)各发生2例。易位t(1;14)(q21;q32.3)、t(3;14)(p11;q32)、t(7;14)(q11.2;q32.3)和t(11;14)(q23;q32.3)在每位患者中均有发现,而其余2例患者的伙伴染色体无法确定。19号染色体短臂19p13.3被新确定为MM易位中涉及的一个常见断裂点。1号和6号染色体也常发生结构异常(分别为14例和10例患者),尽管未发现特定的带型。然而,1号染色体短臂优先发生缺失,提示1p上存在某种与骨髓瘤发生相关的抑癌基因。此外,荧光原位杂交成功应用于确定1例t(8;22)易位患者的结构异常性质。目前的研究结果表明,MM可能存在特定的14q32易位亚群。

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