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Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome

Mesenchymal chondrosarcoma (MCS) is a rare histological variant of chondrosarcoma, with aggressive behaviour. Due to the unique nature of this disease, management strategies are not well established. Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome with a wide tumour spectrum, ass...

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Autores principales: Ventura, Eduardo, Dionísio, Sílvia, Ferreira, Ângela, Saleiro, Rute, Marques, Hugo, Magalhães, Manuel, Monteiro, Carlos
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963167/
https://www.ncbi.nlm.nih.gov/pubmed/31976063
http://dx.doi.org/10.1093/jscr/rjz386
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author Ventura, Eduardo
Dionísio, Sílvia
Ferreira, Ângela
Saleiro, Rute
Marques, Hugo
Magalhães, Manuel
Monteiro, Carlos
author_facet Ventura, Eduardo
Dionísio, Sílvia
Ferreira, Ângela
Saleiro, Rute
Marques, Hugo
Magalhães, Manuel
Monteiro, Carlos
author_sort Ventura, Eduardo
collection PubMed
description Mesenchymal chondrosarcoma (MCS) is a rare histological variant of chondrosarcoma, with aggressive behaviour. Due to the unique nature of this disease, management strategies are not well established. Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome with a wide tumour spectrum, associated with TP53 germline mutations. We report a case of MCS of the maxilla, treated with surgical excision and adjuvant chemotherapy, in a patient with a past medical history of choroid plexus papilloma and a family history of early age first-degree cervical uterine cancer, that led to the clinical suspicion of a cancer predisposition syndrome and the subsequent diagnosis of LFS. This is the first MCS described in a LFS case. It demonstrates that adjuvant chemotherapy should be considered, in conjunction with surgical excision, in MCS and that cancer predisposition syndromes should be suspected in patients with multiple neoplasms and a strong family history of cancer.
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spelling pubmed-69631672020-01-23 Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome Ventura, Eduardo Dionísio, Sílvia Ferreira, Ângela Saleiro, Rute Marques, Hugo Magalhães, Manuel Monteiro, Carlos J Surg Case Rep Case Report Mesenchymal chondrosarcoma (MCS) is a rare histological variant of chondrosarcoma, with aggressive behaviour. Due to the unique nature of this disease, management strategies are not well established. Li-Fraumeni syndrome (LFS) is a rare cancer predisposition syndrome with a wide tumour spectrum, associated with TP53 germline mutations. We report a case of MCS of the maxilla, treated with surgical excision and adjuvant chemotherapy, in a patient with a past medical history of choroid plexus papilloma and a family history of early age first-degree cervical uterine cancer, that led to the clinical suspicion of a cancer predisposition syndrome and the subsequent diagnosis of LFS. This is the first MCS described in a LFS case. It demonstrates that adjuvant chemotherapy should be considered, in conjunction with surgical excision, in MCS and that cancer predisposition syndromes should be suspected in patients with multiple neoplasms and a strong family history of cancer. Oxford University Press 2020-01-13 /pmc/articles/PMC6963167/ /pubmed/31976063 http://dx.doi.org/10.1093/jscr/rjz386 Text en Published by Oxford University Press and JSCR Publishing Ltd. All rights reserved. © The Author(s) 2020. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Case Report
Ventura, Eduardo
Dionísio, Sílvia
Ferreira, Ângela
Saleiro, Rute
Marques, Hugo
Magalhães, Manuel
Monteiro, Carlos
Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title_full Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title_fullStr Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title_full_unstemmed Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title_short Maxillary mesenchymal chondrosarcoma leading to a diagnosis of Li-Fraumeni syndrome
title_sort maxillary mesenchymal chondrosarcoma leading to a diagnosis of li-fraumeni syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6963167/
https://www.ncbi.nlm.nih.gov/pubmed/31976063
http://dx.doi.org/10.1093/jscr/rjz386
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