intrachromosomal rearrangement involving HAS2 with PLAG1

Introduction

• chromosomal aberration involving HAS2 with PLAG1 (q12.1 to 8q24.1 intrachromosomal rearrangement) may be a cause of lipoblastomas
• results in promoter swapping & activation of PLAG1 expression
• the breakpoint of HAS2 gene is in PLAG1 intron 1, whereas its coding sequence starts at exon 2 or exon 3

More general terms

• chromosomal aberration

Additional terms

• lipoblastoma