Ohno H, Ueda C, Akasaka T
Department of Internal Medicine, Faculty of Medicine, Kyoto University, Japan.
Leuk Lymphoma. 2000 Feb;36(5-6):435-45. doi: 10.3109/10428190009148390.
t(9;14)(p13;q32) is a rare but recurring translocation found in a subset of B-cell non-Hodgkin's lymphoma (B-NHL). These lymphomas share clinical features with chronic lymphocytic leukemia and are further characterized by plasmacytoid differentiation of lymphoma cells. Molecular cloning of t(9;14)(p13;q32) revealed juxtaposition of the PAX5 to the immunoglobulin heavy chain gene (IGH), although breakpoints on both genes were variable. The PAX5 gene encodes the BSAP (B-cell-specific activator protein) transcription factor, which is expressed throughout the process of B-cell development except in terminally differentiated plasma cells. t(9;14)(p13;q32) consistently leaves the PAX5 coding region intact, most likely resulting in deregulated expression of the gene product due to the proximity of IGH. The majority cases of B-cell tumors expressed considerable levels of PAX5/BSAP irrespective of whether they exhibited t(9;14)(p13;q32), suggesting that quantitative differences in expression level alone may not account for the development of this particular subtype of B-NHL.
t(9;14)(p13;q32)是一种罕见但反复出现的易位,见于一部分B细胞非霍奇金淋巴瘤(B-NHL)。这些淋巴瘤具有与慢性淋巴细胞白血病相似的临床特征,其进一步特征是淋巴瘤细胞呈浆细胞样分化。对t(9;14)(p13;q32)进行分子克隆发现,PAX5与免疫球蛋白重链基因(IGH)并列,不过两个基因上的断点是可变的。PAX5基因编码BSAP(B细胞特异性激活蛋白)转录因子,该因子在B细胞发育全过程中均有表达,但终末分化的浆细胞除外。t(9;14)(p13;q32)始终使PAX5编码区保持完整,很可能由于IGH的邻近导致该基因产物表达失调。大多数B细胞肿瘤病例均表达相当水平的PAX5/BSAP,无论它们是否显示t(9;14)(p13;q32),这表明仅表达水平的数量差异可能无法解释这种特定亚型B-NHL的发生。