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lipoblastoma

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

General

lipoma; adipocyte neoplasm

References

  1. UniProt :accession Q6DJT9
  2. UniProt :accession P08123