Taniwaki M, Nishida K, Takashima T, Nakagawa H, Fujii H, Tamaki T, Shimazaki C, Horiike S, Misawa S, Abe T
Third Department of Internal Medicine, Kyoto Prefectural University of Medicine, Japan.
Blood. 1994 Oct 1;84(7):2283-90.
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.
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。