A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma

Mazin Deen; Salah Ebrahim; Debbie Schloff; Anwar N Mohamed

doi:10.1016/j.cancergen.2013.05.019

A novel PLAG1-RAD51L1 gene fusion resulting from a t(8;14)(q12;q24) in a case of lipoblastoma

Cancer Genet. 2013 Jun;206(6):233-7. doi: 10.1016/j.cancergen.2013.05.019. Epub 2013 Jul 23.

Authors

Mazin Deen¹, Salah Ebrahim, Debbie Schloff, Anwar N Mohamed

Affiliation

¹ Cytogenetic Laboratory, Department of Pathology, Wayne State University School of Medicine, Detroit Medical Center, Detroit, MI, USA.

PMID: 23890983
DOI: 10.1016/j.cancergen.2013.05.019

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.

Keywords: 14q24; 8q12; Lipoblastoma; PLAG1; RAD51L1.

Publication types

Case Reports

MeSH terms

Cytogenetic Analysis
DNA-Binding Proteins / genetics*
Head and Neck Neoplasms / genetics*
Humans
Infant
Lipoblastoma / genetics*
Male
Oligonucleotide Array Sequence Analysis
Oncogene Proteins, Fusion / genetics*
Translocation, Genetic

Substances

DNA-Binding Proteins
Oncogene Proteins, Fusion
PLAG1 protein, human
RAD51B protein, human