Kazmierczak B, Dal Cin P, Wanschura S, Bartnitzke S, Van den Berghe H, Bullerdiek J
Center for Human Genetics and Genetic Counseling, University of Bremen, Germany.
Am J Pathol. 1998 Feb;152(2):431-5.
Aberrations of the HMGIC gene, encoding an architectural transcription factor and located in the chromosomal region 12q15, are very frequent among benign mesenchymal tumors, such as lipomas, uterine leiomyomas, or pulmonary chondroid hamartomas. These HMGIC aberrations are caused by characteristic structural chromosomal aberrations, either visible by conventional cytogenetics or as cryptic abnormalities. Some of these aberrations of chromosome 12 are not specific for particular tumor entities but can occur in a variety of tumors with HMGIC abnormalities. One such example is the pericentric inversion inv(12)(p11.2q15). Starting from the ectopic sequence derived from an HMGIC fusion transcript of an aggressive angiomyxoma with such an inversion we established three PAC clones covering the breakpoint region 12p11 and cloned part of a yet unknown gene in 12p11.2, which is fused to the third exon of HMGIC. Using fluorescence in situ hybridization with these PACs we were able to show that the same region was involved by 12p11.2 aberrations in lipomas, aggressive angiomyxomas, and pulmonary chondroid hamartomas.
HMGIC基因编码一种结构转录因子，位于染色体区域12q15，在良性间叶性肿瘤中非常常见，如脂肪瘤、子宫平滑肌瘤或肺软骨样错构瘤。这些HMGIC畸变是由特征性的染色体结构畸变引起的，这些畸变可以通过传统细胞遗传学观察到，也可以是隐匿性异常。12号染色体的一些畸变并非特定肿瘤实体所特有，而是可以出现在各种存在HMGIC异常的肿瘤中。一个这样的例子是12号染色体的臂间倒位inv(12)(p11.2q15)。从具有这种倒位的侵袭性血管黏液瘤的HMGIC融合转录本衍生的异位序列开始，我们建立了三个覆盖12p11断点区域的PAC克隆，并克隆了12p11.2中一个未知基因的部分序列，该基因与HMGIC的第三个外显子融合。使用这些PAC进行荧光原位杂交，我们能够显示脂肪瘤、侵袭性血管黏液瘤和肺软骨样错构瘤中12p11.2畸变涉及相同区域。
