Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

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 chrom...

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Bibliographic Details
Main Authors: Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman, Ninette Cohen
Format: Article
Language:English
Published: BMC 2023-11-01
Series:Molecular Cytogenetics
Subjects:
Chromothripsis
Lipoblastoma (LPB)
FISH
Microarray
Chromosomes
PLAG1
Online Access:https://doi.org/10.1186/s13039-023-00665-x
Description
Summary: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.
ISSN:1755-8166

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