Reed J C, Tanaka S
La Jolla Cancer Research Foundation, Cancer Research Center, CA 92037.
Leuk Lymphoma. 1993 Jun;10(3):157-63. doi: 10.3109/10428199309145877.
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.
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。t[14;18]使位于18q21的bcl-2基因与位于14q32的免疫球蛋白重链基因座融合，导致bcl-2表达失调，并在大多数非霍奇金淋巴瘤中产生高水平的其编码的26-kD蛋白。最近的数据表明，体细胞点突变经常发生在易位的bcl-2等位基因中，这可能是由于与免疫球蛋白基因座相关的体细胞超突变机制，该机制通常有助于抗体多样性。在某些情况下，这些突变可影响bcl-2基因的开放阅读框，从而改变Bcl-2蛋白。在此，我们综述了目前关于人类淋巴瘤和白血病易位bcl-2基因内体细胞突变的发生率、生物学效应及可能的临床重要性的现有数据。
