Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

Abstract

Abstract Lipoblastomas (LPBs) are rare benign neoplasms derived from embryonal adipose that occur predominantly in childhood. LPBs typically present with numeric or structural rearrangements of chromosome 8, the majority of which involve the pleomorphic adenoma gene 1 (PLAG1) proto-oncogene on chromosome 8q12. Here, we report on a LPB case on which showed evidence of chromothripsis. This is the second reported case of chromothripsis in LPB.

Keywords

• Chromothripsis
• Lipoblastoma (LPB)
• FISH
• Microarray
• Chromosomes
• PLAG1