Yamamoto Katsuya, Matsuoka Hiroshi, Yakushijin Kimikazu, Funakoshi Yohei, Okamura Atsuo, Hayashi Yoshitake, Minami Hironobu
Division of Medical Oncology/Hematology, Department of Medicine, Kobe University Graduate School of Medicine, Japan.
Cancer Genet. 2011 Sep;204(9):501-6. doi: 10.1016/j.cancergen.2011.08.017.
Chromosomal translocations involving MYC at 8q24 are found in Burkitt lymphoma (BL), diffuse large B-cell lymphoma (DLBCL), and B-cell lymphoma, unclassifiable, with features intermediate between DLBCL and BL (BCLU). Here, we describe a novel five-way translocation, t(3;9;13;8;14)(q27;p13;q32;q24;q32), involving MYC, BCL6, and the immunoglobulin heavy locus (IGH@) in a 73-year-old man with BCLU. The bone marrow was massively infiltrated with 95.6% abnormal medium- to large-sized lymphoid cells without vacuoles. Flow cytometric analyses indicated that the infiltrating cells were positive for CD10, CD19, CD20, CD25, HLA-DR, and κ chain. Immunohistochemistry revealed that they were also positive for BCL2 and CD10, and weakly positive for BCL6. The MIB1 index was approximately 99%. G-banding and spectral karyotyping demonstrated the presence of a t(3;9;13;8;14)(q27;p13;q32;q24;q32). Fluorescence in situ hybridization detected an IGH/MYC fusion signal on the der(14)t(8;14)(q24;q32). In addition, 5' and 3'BCL6 signals were separated onto the der(9)t(3;9)(q27;p13) and the der(3)t(3;14)(q27;q32), respectively. Unexpectedly, no BCL6 signal was found on the non-translocated chromosome 3. Finally, the revised karyotype was as follows: 49,XY,del(3)(q27q27),t(3;9;13;8;14)(q27;p13;q32;q24;q32), +der(6)t(6;13)(q13;q32)t(9;13)(p13;q32),+7,+12,i(18)(q10)[2]/50,sl,+7[2]/50,sl,+2[1]. These results suggest that this five-way translocation could bring about the deregulated expression of MYC on the der(14)t(8;14) and BCL6 on the der(3)t(3;14) by the IGH@ enhancer/promoter in a single event and may have contributed to the development of this BCLU.
涉及位于8q24的MYC的染色体易位在伯基特淋巴瘤（BL）、弥漫性大B细胞淋巴瘤（DLBCL）以及具有介于DLBCL和BL之间特征的不可分类B细胞淋巴瘤（BCLU）中均有发现。在此，我们描述了一种新的五重易位，t(3;9;13;8;14)(q27;p13;q32;q24;q32)，在一名患有BCLU的73岁男性中涉及MYC、BCL6和免疫球蛋白重链基因座（IGH@）。骨髓被95.6%的无空泡异常中至大尺寸淋巴细胞大量浸润。流式细胞术分析表明浸润细胞CD1０、CD19、CD20、CD25、HLA-DR和κ链呈阳性。免疫组织化学显示它们BCL2和CD10也呈阳性，BCL6呈弱阳性。MIB1指数约为99%。G显带和光谱核型分析证实存在t(3;9;13;8;14)(q27;p13;q32;q24;q32)。荧光原位杂交在der(14)t(8;14)(q24;q32)上检测到IGH/MYC融合信号。此外，5'和3'BCL6信号分别定位于der(9)t(3;9)(q27;p13)和der(3)t(3;14)(q27;q32)。出乎意料的是，在未发生易位的3号染色体上未发现BCL6信号。最后，修正后的核型如下：49,XY,del(3)(q27q27),t(3;9;13;8;14)(q27;p13;q32;q24;q32), +der(6)t(6;13)(q13;q32)t(9;13)(p13;q32),+7,+12,i(18)(q10)[2]/50,sl,+7[2]/50,sl,+2[1]。这些结果表明这种五重易位可能通过IGH@增强子/启动子在单个事件中导致der(14)t(8;14)上的MYC和der(3)t(3;14)上的BCL6表达失调，并可能促成了该BCLU的发生发展。
