SOMATIC POINT MUTATIONS IN THE TRANSLOCATED BCL-2 GENES OF NON-HODGKINS-LYMPHOMAS AND LYMPHOCYTIC LEUKEMIAS - IMPLICATIONS FOR MECHANISMS OF TUMOR PROGRESSION
SOMATIC POINT MUTATIONS IN THE TRANSLOCATED BCL-2 GENES OF NON-HODGKINS-LYMPHOMAS AND LYMPHOCYTIC LEUKEMIAS - IMPLICATIONS FOR MECHANISMS OF TUMOR PROGRESSION
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DOI：
10.3109/10428199309145877
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发表时间：
1993-06-01
影响因子：
2.6
通讯作者：
TANAKA, S
中科院分区：
文献类型：
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作者：
REED, JC;TANAKA, S
T[14；18]染色体易位是血液淋巴系统恶性肿瘤中最常见的细胞遗传学异常。在大多数非霍奇金淋巴瘤中，t[14；18]融合了位于18q21的bcl2基因和位于14q32的免疫球蛋白重链基因，导致bcl2的表达失控并产生高水平的编码26-kD的蛋白。最近的数据表明，易位的bcl2等位基因经常发生体细胞点突变，这可能是由于与免疫球蛋白基因相关的体细胞高突变机制，这通常有助于抗体的多样性。在某些情况下，这些突变会影响bcl2基因的开放阅读框架，从而改变bcl2蛋白。在这里，我们回顾了目前可用的关于人类淋巴瘤和白血病中易位的bcl2基因内的体细胞突变的发生率、生物学效应和可能的临床重要性的数据。
The t[14;18] chromosomal translocation is the most common cytogenetic abnormality found in hematolymphoid malignancies. The t[14;18] fuses the bcl-2 gene at 18q21 with the immunoglobulin heavy-chain locus at 14q32, resulting in deregulated expression of bcl-2 and production of high levels of its encoded 26-kD protein in the majority of non-Hodgkin lymphomas. Recent data indicate that somatic point mutations frequently occur in translocated bcl-2 alleles, possibly because of the somatic hypermutation mechanism that is associated with the immunoglobulin gene loci and that normally contributes to antibody diversity. In some cases, these mutations can affect the open reading frame of the bcl-2 gene and thereby alter Bcl-2 proteins. Here, we review the currently available data about the incidence, biological effects, and possible clinical importance of somatic mutations within the translocated bcl-2 genes of human lymphomas and leukemias.