Pierantoni Giovanna Maria, Santulli Basilia, Caliendo Irene, Pentimalli Francesca, Chiappetta Gennaro, Zanesi Nicola, Santoro Massimo, Bulrich Florencia, Fusco Alfredo
Dipartimento di Biologia e Patologia Cellulare e Molecolare c/o Centro di Endocrinologia ed Oncologia Sperimentale del CNR, Facoltà di Medicina e Chirurgia di Napoli, Università degli Studi di Napoli Federico II, 80131 Naples, Italy.
Int J Oncol. 2003 Aug;23(2):363-7.
We report the first case of acute lymphoblastic leukemia associated with a t(9;12)(p22;q14) translocation within the HMGA2 locus. The breakpoint lies in the 5' region. Fluorescence in situ hybridization with a BAC clone covering the 5' region produced three signals versus two signals with a BAC clone covering the 3' region including intron 3 of HMGA2, which harbors most of the breakpoints described in benign mesenchymal tumors. HMGA2 locus rearrangement was associated with overexpression of an HMGA2 mRNA that lacked a carboxy-terminal tail. These results suggest that the HMGA2 gene rearrangement may contribute to the malignancy in leukemias harboring a 12q translocation.
我们报告了首例急性淋巴细胞白血病，其与位于HMGA2基因座内的t(9;12)(p22;q14)易位相关。断点位于5'区域。用覆盖5'区域的BAC克隆进行荧光原位杂交产生了三个信号，而用覆盖3'区域（包括HMGA2的内含子3，良性间充质肿瘤中描述的大多数断点都位于此）的BAC克隆进行杂交则产生了两个信号。HMGA2基因座重排与缺少羧基末端尾巴的HMGA2 mRNA的过表达相关。这些结果表明，HMGA2基因重排可能在伴有12q易位的白血病的恶性肿瘤发生中起作用。
