Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

Autor: Joel Lanceta, Joseph Tripodi, Lynne Karp, Meira Shaham, Nayyara Mahmood, Vesna Najfeld, Morris Edelman, Ninette Cohen
Jazyk: angličtina
Rok vydání: 2023
Předmět:
Zdroj: Molecular Cytogenetics, Vol 16, Iss 1, Pp 1-7 (2023)
Druh dokumentu: article
ISSN: 1755-8166
DOI: 10.1186/s13039-023-00665-x
Popis: 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.
Databáze: Directory of Open Access Journals