Yamazaki Tomohiro, Ohno Hitoshi
Department of Hematology, Hyogo Prefectural Amagasaki Hospital, Japan.
Intern Med. 2011;50(21):2659-62. doi: 10.2169/internalmedicine.50.5815. Epub 2011 Nov 1.
A 50-year-old man presented with an ileocecal tumor and a large amount of ascites. Lymphoma cells obtained from the ascitic fluid were CD10(+), CD20(+), CD38(+), HLA-DR(+), BCL6(-), MUM1/IRF4(+), BCL2(+), and immunoglobulin µ/γ(+). The karyotype determined by G-banding and spectral karyotyping was 46, XY, der(3)t(1;3)(q12;p12), -4, +7, t(8;14)(q24;q32), t(12;14)(q24;q32), der(17)t(4;17)(q21;p11). Fluorescence in situ hybridization disclosed that 93% of interphase cells were positive for the c-MYC and immunoglobulin heavy chain gene fusion. The patient was treated with intensive chemo-immunotherapy, resulting in a complete response. The t(8;14)-t(12;14) double-hit may have generated molecular abnormalities analogous to those of a previously cloned three-way translocation t(8;12;14).
一名50岁男性因回盲部肿瘤及大量腹水就诊。从腹水中获取的淋巴瘤细胞CD10(+)、CD20(+)、CD38(+)、HLA-DR(+)、BCL6(-)、MUM1/IRF4(+)、BCL2(+),免疫球蛋白µ/γ(+)。通过G显带和光谱核型分析确定的核型为46, XY, der(3)t(1;3)(q12;p12), -4, +7, t(8;14)(q24;q32), t(12;14)(q24;q32), der(17)t(4;17)(q21;p11)。荧光原位杂交显示93%的间期细胞c-MYC和免疫球蛋白重链基因融合呈阳性。该患者接受了强化化疗免疫治疗,结果完全缓解。t(8;14)-t(12;14)双打击可能产生了与先前克隆的三向易位t(8;12;14)类似的分子异常。