Lemke I, Rogalla P, Bullerdiek J
Center of Human Genetics, University of Bremen, Leobenerstr. ZHG, D-28359, Bremen, Germany.
Cancer Genet Cytogenet. 2001 Sep;129(2):161-4. doi: 10.1016/s0165-4608(01)00441-1.
The high mobility group protein gene HMGIC has been found to be rearranged in a variety of human benign solid tumors. Often, these rearrangements lead to fusion genes of which that between HMGIC and LPP underlying t(3;12)(q27 approximately q28;q14 approximately q15) is by far the most common. Herein, we analysed a lipoma with a t(3;12)(q27 approximately q28;q14 approximately q15). RT-PCR revealed the presence of a HMGIC-LPP fusion transcript composed of exons 1-3 of HMGIC and exons 9-11 of LPP, but the absence of the reverse LPP-HMGIC fusion transcript. Fluorescence in situ hybridization experiments using different probes derived from the HMGIC gene and its 3' vicinity showed the absence of FISH signals on the derivative chromosome 3. Thus, in the present tumor the t(3;12)(q27 approximately q28;q14 approximately q15) was accompanied by a large genomic deletion. Roughly, it can be estimated that at least 170 kb of chromosome 12 material were deleted. To the best of our knowledge, this is the first report showing that the "simple" t(3;12)(q27 approximately q28;q14 approximately q15) results in a large deletion of DNA.
高迁移率族蛋白基因HMGIC已被发现在多种人类良性实体瘤中发生重排。通常，这些重排会导致融合基因的产生，其中HMGIC与LPP之间基于t(3;12)(q27约q28;q14约q15)的融合基因是迄今为止最常见的。在此，我们分析了一例具有t(3;12)(q27约q28;q14约q15)的脂肪瘤。逆转录聚合酶链反应（RT-PCR）显示存在一种由HMGIC的外显子1-3和LPP的外显子9-11组成的HMGIC-LPP融合转录本，但不存在反向的LPP-HMGIC融合转录本。使用源自HMGIC基因及其3'附近区域的不同探针进行的荧光原位杂交实验显示，衍生的3号染色体上没有荧光原位杂交信号。因此，在本肿瘤中，t(3;12)(q27约q28;q14约q15)伴随着大片段基因组缺失。粗略估计，12号染色体上至少有170 kb的物质被删除。据我们所知，这是第一份表明“简单的”t(3;12)(q27约q28;q14约q15)会导致大片段DNA缺失的报告。
