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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| Format: | Article |
| Language: | English |
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Wiley
2019-01-01
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| Series: | Case Reports in Orthopedics |
| Online Access: | http://dx.doi.org/10.1155/2019/8732089 |
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| author | Marine Huby Laurence Brugières Eric Mascard Nathalie Gaspar Stéphanie Pannier Jean-Charles Aurégan |
| author_facet | Marine Huby Laurence Brugières Eric Mascard Nathalie Gaspar Stéphanie Pannier Jean-Charles Aurégan |
| author_sort | Marine Huby |
| collection | DOAJ |
| 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 | Article |
| id | doaj-art-2f3eb36719734812a4109c731ea72d96 |
| institution | Kabale University |
| issn | 2090-6749 2090-6757 |
| language | English |
| publishDate | 2019-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Orthopedics |
| spelling | doaj-art-2f3eb36719734812a4109c731ea72d962025-08-20T03:55:16ZengWileyCase Reports in Orthopedics2090-67492090-67572019-01-01201910.1155/2019/87320898732089Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni SyndromeMarine Huby0Laurence Brugières1Eric Mascard2Nathalie Gaspar3Stéphanie Pannier4Jean-Charles Aurégan5Department of Pediatric Orthopedics, Necker-Enfants Malades Hospital, AP-HP, University Paris Descartes, 149 Rue de Sèvres, 75014 Paris, FranceDepartment of Pediatric and Adolescents Oncology, Gustave Roussy Cancer Campus, Paris Saclay-University, 114 Rue Édouard Vaillant, 94800 Villejuif, FranceDepartment of Pediatric Orthopedics, Necker-Enfants Malades Hospital, AP-HP, University Paris Descartes, 149 Rue de Sèvres, 75014 Paris, FranceDepartment of Pediatric and Adolescents Oncology, Gustave Roussy Cancer Campus, Paris Saclay-University, 114 Rue Édouard Vaillant, 94800 Villejuif, FranceDepartment of Pediatric Orthopedics, Necker-Enfants Malades Hospital, AP-HP, University Paris Descartes, 149 Rue de Sèvres, 75014 Paris, FranceDepartment of Pediatric Orthopedics, Necker-Enfants Malades Hospital, AP-HP, University Paris Descartes, 149 Rue de Sèvres, 75014 Paris, FranceLi-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.http://dx.doi.org/10.1155/2019/8732089 |
| spellingShingle | Marine Huby Laurence Brugières Eric Mascard Nathalie Gaspar Stéphanie Pannier Jean-Charles Aurégan Difficulties of Management of Multiple Synchronous Bone Tumors in Li-Fraumeni Syndrome Case Reports in Orthopedics |
| 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 |
| url | http://dx.doi.org/10.1155/2019/8732089 |
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