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伴有潜在HMGIC-LPP融合的t(3;12)(q27;q14-q15)并未决定脂肪细胞表型。

The t(3;12)(q27;q14-q15) with underlying HMGIC-LPP fusion is not determining an adipocytic phenotype.

作者信息

Rogalla P, Kazmierczak B, Meyer-Bolte K, Tran K H, Bullerdiek J

机构信息

Center of Human Genetics and Genetic Counselling, University of Bremen, Germany.

出版信息

Genes Chromosomes Cancer. 1998 Jun;22(2):100-4. doi: 10.1002/(sici)1098-2264(199806)22:2<100::aid-gcc3>3.0.co;2-0.

Abstract

The HMGIC gene, located in chromosome band 12q15, is rearranged in many different benign human tumors, often resulting in its fusion to ectopic sequences from other genes. The t(3;12)(q27;q14-q15) fuses HMGIC with the LPP gene and has so far been described exclusively in lipomas. Thus, it can be hypothesized that this particular gene fusion determines the adipocytic differentiation. We studied five pulmonary chondroid hamartomas all showing a t(3;12)(q27;q14-q15) that apparently was identical to the one observed in lipomas. By fluorescence in situ hybridization we found that both HMGIC and LPP are disrupted by this translocation. By RT-PCR the existence of a HMGIC/LPP fusion gene was confirmed. These results show that the fusion is not specific for lipomas. We favor the hypothesis that it is an ectopic sequence fused to HMGIC that is responsible for a cell shift to an embryogenic stage. Following this hypothesis the phenotype of the tumor may be induced by extracellular signal transduction.

摘要

HMGIC基因位于12号染色体12q15带,在许多不同的人类良性肿瘤中发生重排,常导致其与其他基因的异位序列融合。t(3;12)(q27;q14-q15)使HMGIC与LPP基因融合,迄今为止仅在脂肪瘤中被描述。因此,可以推测这种特定的基因融合决定了脂肪细胞分化。我们研究了5例肺软骨样错构瘤,所有病例均显示t(3;12)(q27;q14-q15),显然与脂肪瘤中观察到的相同。通过荧光原位杂交,我们发现HMGIC和LPP均因这种易位而被破坏。通过逆转录聚合酶链反应证实了HMGIC/LPP融合基因的存在。这些结果表明这种融合并非脂肪瘤所特有。我们支持这样的假说,即与HMGIC融合的异位序列导致细胞向胚胎阶段转变。按照这一假说,肿瘤的表型可能由细胞外信号转导诱导。

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