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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...
Autores principales: | , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Hindawi
2019
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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. |
format | Online Article Text |
id | pubmed-6885189 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Hindawi |
record_format | MEDLINE/PubMed |
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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