Panagopoulos Ioannis, Gorunova Ludmila, Bjerkehagen Bodil, Lobmaier Ingvild, Heim Sverre
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Section for Cancer Cytogenetics, Institute for Cancer Genetics and Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway; Centre for Cancer Biomedicine, Faculty of Medicine, University of Oslo, Oslo, Norway.
Cancer Genet. 2015 Nov;208(11):545-51. doi: 10.1016/j.cancergen.2015.07.007. Epub 2015 Aug 3.
RNA sequencing of an aneurysmal benign fibrous histiocytoma with the karyotype 46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2] showed that the t(3;11) generated two fusion genes: LAMTOR1-PRKCD and NUMA1-SFMBT1. RT-PCR together with Sanger sequencing verified the presence of fusion transcripts from both fusion genes. In the LAMTOR1-PRKCD fusion, the part of the PRKCD gene coding for the catalytic domain of the serine/threonine kinase is under control of the LAMTOR1 promoter. In the NUMA1-SFMBT1 fusion, the part of the SFMBT1 gene coding for two of four malignant brain tumor domains and the sterile alpha motif domain is controlled by the NUMA1 promoter. The data support a neoplastic genesis of aneurysmal benign fibrous histiocytoma and indicate a pathogenetic role for LAMTOR1-PRKCD and NUMA1-SFMBT1.
对核型为46,XY,t(3;11)(p21;q13),del(6)(p23)[17]/46,XY[2]的动脉瘤性良性纤维组织细胞瘤进行RNA测序，结果显示t(3;11)产生了两个融合基因：LAMTOR1-PRKCD和NUMA1-SFMBT1。逆转录聚合酶链反应（RT-PCR）及桑格测序证实了这两个融合基因均存在融合转录本。在LAMTOR1-PRKCD融合基因中，编码丝氨酸/苏氨酸激酶催化结构域的PRKCD基因部分受LAMTOR1启动子调控。在NUMA1-SFMBT1融合基因中，编码四个恶性脑肿瘤结构域中的两个以及无活性α基序结构域的SFMBT1基因部分受NUMA1启动子调控。这些数据支持动脉瘤性良性纤维组织细胞瘤的肿瘤发生，并表明LAMTOR1-PRKCD和NUMA1-SFMBT1在发病机制中起作用。
