Rogalla P, Lemke I, Kazmierczak B, Bullerdiek J
Center of Human Genetics and Genetic Counseling, University of Bremen, Bremen, Germany.
Genes Chromosomes Cancer. 2000 Dec;29(4):363-6.
The high frequency of the t(3;12)(q27-28;q14-15) in lipomas and pulmonary chondroid hamartomas (PCHs) makes the HMGIC-LPP fusion gene the most common fusion gene in a human tumor known so far. Nevertheless, there is no in-depth molecular analysis of the HMGIC-LPP fusion transcripts in PCHs. Certainly, a possible molecular variability of the HMGIC-LPP fusion may contribute to a better understanding of the histologic differences between lipomas and PCHs and the intratumoral histologic heterogeneity of PCHs. By RT-PCR and restriction analysis, we have investigated the HMGIC-LPP fusion transcripts in a series of 13 PCHs with t(3;12)(q27-28;q14-q15). HMGIC-LPP fusion transcripts of identical size were found in all PCHs tested. In all tumors investigated, the fusion transcripts had the same structure, i.e., exons 1 to 3 of HMGIC and exons 9 to 11 of LPP encoding a protein composed of three AT-hooks and two LIM-domains. Our results clearly show that neither the histologic differences between lipomas and PCHs nor the histologic heterogeneity of PCHs can be explained by a molecular diversity of the HMGIC-LPP fusion transcript.
在脂肪瘤和肺软骨样错构瘤（PCH）中，t(3;12)(q27 - 28;q14 - 15)的高频率出现使得HMGIC - LPP融合基因成为目前已知人类肿瘤中最常见的融合基因。然而，尚未对PCH中的HMGIC - LPP融合转录本进行深入的分子分析。当然，HMGIC - LPP融合的可能分子变异性可能有助于更好地理解脂肪瘤和PCH之间的组织学差异以及PCH的肿瘤内组织学异质性。通过逆转录聚合酶链反应（RT - PCR）和限制性分析，我们研究了13例具有t(3;12)(q27 - 28;q14 - q15)的PCH中的HMGIC - LPP融合转录本。在所有测试的PCH中均发现了大小相同的HMGIC - LPP融合转录本。在所有研究的肿瘤中，融合转录本具有相同的结构，即HMGIC的外显子1至3和LPP的外显子9至11，编码一种由三个AT钩和两个LIM结构域组成的蛋白质。我们的结果清楚地表明，脂肪瘤和PCH之间的组织学差异以及PCH的组织学异质性均不能通过HMGIC - LPP融合转录本的分子多样性来解释。
