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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Autores principales: Lanceta, Joel, Tripodi, Joseph, Karp, Lynne, Shaham, Meira, Mahmood, Nayyara, Najfeld, Vesna, Edelman, Morris, Cohen, Ninette
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2023
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683218/
https://www.ncbi.nlm.nih.gov/pubmed/38012697
http://dx.doi.org/10.1186/s13039-023-00665-x
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author Lanceta, Joel
Tripodi, Joseph
Karp, Lynne
Shaham, Meira
Mahmood, Nayyara
Najfeld, Vesna
Edelman, Morris
Cohen, Ninette
author_facet Lanceta, Joel
Tripodi, Joseph
Karp, Lynne
Shaham, Meira
Mahmood, Nayyara
Najfeld, Vesna
Edelman, Morris
Cohen, Ninette
author_sort Lanceta, Joel
collection PubMed
description 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.
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spelling pubmed-106832182023-11-30 Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement Lanceta, Joel Tripodi, Joseph Karp, Lynne Shaham, Meira Mahmood, Nayyara Najfeld, Vesna Edelman, Morris Cohen, Ninette Mol Cytogenet Research 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. BioMed Central 2023-11-27 /pmc/articles/PMC10683218/ /pubmed/38012697 http://dx.doi.org/10.1186/s13039-023-00665-x Text en © The Author(s) 2023 https://creativecommons.org/licenses/by/4.0/Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Lanceta, Joel
Tripodi, Joseph
Karp, Lynne
Shaham, Meira
Mahmood, Nayyara
Najfeld, Vesna
Edelman, Morris
Cohen, Ninette
Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title_full Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title_fullStr Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title_full_unstemmed Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title_short Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
title_sort chromothripsis in lipoblastoma: second reported case with complex plag1 rearrangement
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10683218/
https://www.ncbi.nlm.nih.gov/pubmed/38012697
http://dx.doi.org/10.1186/s13039-023-00665-x
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