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Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome

Li-Fraumeni syndrome is a rare inherited disease characterized by the early onset of multiple primary malignant tumors. Sarcomas account for more than 30% of all malignant tumors occurring at pediatric age. Furthermore, it was shown that the rates of second cancer were higher in childhood cancer sur...

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Autores principales: Huby, Marine, Brugières, Laurence, Mascard, Eric, Gaspar, Nathalie, Pannier, Stéphanie, Aurégan, Jean-Charles
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885189/
https://www.ncbi.nlm.nih.gov/pubmed/31827960
http://dx.doi.org/10.1155/2019/8732089
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author Huby, Marine
Brugières, Laurence
Mascard, Eric
Gaspar, Nathalie
Pannier, Stéphanie
Aurégan, Jean-Charles
author_facet Huby, Marine
Brugières, Laurence
Mascard, Eric
Gaspar, Nathalie
Pannier, Stéphanie
Aurégan, Jean-Charles
author_sort Huby, Marine
collection PubMed
description Li-Fraumeni syndrome is a rare inherited disease characterized by the early onset of multiple primary malignant tumors. Sarcomas account for more than 30% of all malignant tumors occurring at pediatric age. Furthermore, it was shown that the rates of second cancer were higher in childhood cancer survivors. We report the case of a patient with Li-Fraumeni syndrome who was referred to us with three synchronous skeletal tumors. This unique situation led to difficulties for the medical team regarding the diagnosis of malignancy and the surgical treatment to propose. The discovery of multiple lesions in the extension assessment underlines the usefulness of whole-body imaging for the follow-up of patients with germline TP53 mutations. Most recent guidelines now recommend annual whole-body MRI for screening for cancer patients carrying germline TP53. With this report, we aim to share our experience with this rare situation in order to improve care about these specific cases.
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spelling pubmed-68851892019-12-11 Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome Huby, Marine Brugières, Laurence Mascard, Eric Gaspar, Nathalie Pannier, Stéphanie Aurégan, Jean-Charles Case Rep Orthop Case Report Li-Fraumeni syndrome is a rare inherited disease characterized by the early onset of multiple primary malignant tumors. Sarcomas account for more than 30% of all malignant tumors occurring at pediatric age. Furthermore, it was shown that the rates of second cancer were higher in childhood cancer survivors. We report the case of a patient with Li-Fraumeni syndrome who was referred to us with three synchronous skeletal tumors. This unique situation led to difficulties for the medical team regarding the diagnosis of malignancy and the surgical treatment to propose. The discovery of multiple lesions in the extension assessment underlines the usefulness of whole-body imaging for the follow-up of patients with germline TP53 mutations. Most recent guidelines now recommend annual whole-body MRI for screening for cancer patients carrying germline TP53. With this report, we aim to share our experience with this rare situation in order to improve care about these specific cases. Hindawi 2019-11-13 /pmc/articles/PMC6885189/ /pubmed/31827960 http://dx.doi.org/10.1155/2019/8732089 Text en Copyright © 2019 Marine Huby et al. http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Huby, Marine
Brugières, Laurence
Mascard, Eric
Gaspar, Nathalie
Pannier, Stéphanie
Aurégan, Jean-Charles
Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title_full Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title_fullStr Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title_full_unstemmed Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title_short Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome
title_sort difficulties of management of multiple synchronous bone tumors in li-fraumeni syndrome
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6885189/
https://www.ncbi.nlm.nih.gov/pubmed/31827960
http://dx.doi.org/10.1155/2019/8732089
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