Deen Mazin, Ebrahim Salah, Schloff Debbie, Mohamed Anwar N
Cytogenetic Laboratory, Department of Pathology, Wayne State University School of Medicine, Detroit Medical Center, Detroit, MI, USA.
Cancer Genet. 2013 Jun;206(6):233-7. doi: 10.1016/j.cancergen.2013.05.019. Epub 2013 Jul 23.
Lipoblastomas are rare benign tumors that arise from embryonic adipose tissue and occur predominantly in the pediatric population. Here, we report a case of lipoblastoma in an 8-month-old boy. Surgical excision and subsequent histopathologic examination were consistent with features of lipoblastoma. Chromosome analysis of the tumor revealed a clonal unbalanced t(8;14) translocation. Genomic microarray analysis of the tumor delineated the exact breakpoints at 8q12.1 and 14q24.1, which involved the PLAG1 and RADA51L1 genes, respectively. Furthermore, fluorescence in situ hybridization demonstrated that the translocation fused the PLAG1-RAD51L1 genes. These results suggest that RAD51L1 is an alternative fusion partner gene for the PLAG1 gene in a lipoblastoma with an 8q12 rearrangement.
脂肪母细胞瘤是一种罕见的良性肿瘤，起源于胚胎脂肪组织，主要发生于儿童群体。在此，我们报告一例8个月大男童的脂肪母细胞瘤病例。手术切除及后续组织病理学检查结果与脂肪母细胞瘤的特征相符。对该肿瘤进行染色体分析发现了一个克隆性不平衡t(8;14)易位。对该肿瘤进行基因组微阵列分析确定了8q12.1和14q24.1处的确切断点，分别涉及PLAG1和RADA51L1基因。此外，荧光原位杂交显示该易位使PLAG1-RAD51L1基因融合。这些结果表明，在具有8q12重排的脂肪母细胞瘤中，RAD51L1是PLAG1基因的一个替代性融合伙伴基因。
