title: A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma.
abstract: 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.
authors.affiliation: Cytogenetic Laboratory, Department of Pathology, Wayne State University School of Medicine, Detroit Medical Center, Detroit, MI, USA.
authors.forename: Mazin
authors.initials: M
authors.lastname: Deen
authors.forename: Salah
authors.initials: S
authors.lastname: Ebrahim
authors.forename: Debbie
authors.initials: D
authors.lastname: Schloff
authors.forename: Anwar N
authors.initials: AN
authors.lastname: Mohamed
mesh_terms: D020732:Cytogenetic Analysis; D004268:DNA-Binding Proteins / Q000235:genetics*; D006258:Head and Neck Neoplasms / Q000235:genetics*; D006801:Humans; D007223:Infant; D062689:Lipoblastoma / Q000235:genetics*; D008297:Male; D020411:Oligonucleotide Array Sequence Analysis; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: D004268:DNA-Binding Proteins; D015514:Oncogene Proteins, Fusion; C104382:PLAG1 protein, human; C413002:RAD51B protein, human
keywords: 14q24; 8q12; Lipoblastoma; PLAG1; RAD51L1