lipoblastoma
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Epidemiology
- usually diagnosed in children
Pathology
- benign tumors resulting from transformation of adipocytes
Genetics
- 8q12.1 to 8q24.1 intrachromosomal rearrangement involving PLAG1 with hyaluronic acid synthase 2/HAS2 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
- chromosomal translocation t(7;8)(p22;q13