Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement

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 8q1...

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Bibliographic Details
Published in:	Molecular cytogenetics Vol. 16; no. 1; pp. 1 - 32
Main Authors:	Lanceta, Joel, Tripodi, Joseph, Karp, Lynne, Shaham, Meira, Mahmood, Nayyara, Najfeld, Vesna, Edelman, Morris, Cohen, Ninette
Format:	Journal Article
Language:	English
Published:	London BioMed Central Ltd 27-11-2023 BioMed Central BMC
Subjects:	Adipocytes Body fat Children Chromosome 8 Chromosomes Chromothripsis FISH Genes Hybridization Lipoblastoma Lipoblastoma (LPB) Microarray Pathology PLAG1 Tumors
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Summary:	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.
Bibliography:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 23
ISSN:	1755-8166 1755-8166
DOI:	10.1186/s13039-023-00665-x