| Title: |
Li–Fraumeni‐associated osteosarcomas: The French experience |
| Authors: |
Saucier, Emilie; Bougeard, Gaëlle; Gomez‐mascard, Anne; Schramm, Catherine; Abbas, Rachid; Berlanga, Pablo; Briandet, Claire; Castex, Marie‐pierre; Corradini, Nadège; Coze, Carole; Guerrini‐rousseau, Léa; Guinebretière, Jean‐marc; Khneisser, Pierre; Lervat, Cyril; Mansuy, Ludovic; Marec‐berard, Perrine; Marie‐cardine, Aude; Mascard, Eric; Saumet, Laure; Tabone, Marie‐dominique; Winter, Sarah; Frebourg, Thierry; Gaspar, Nathalie; Brugieres, Laurence |
| Contributors: |
Université Paris-Saclay; Département de cancérologie de l'enfant et de l'adolescent Gustave Roussy; Institut Gustave Roussy (IGR); Cancer and Brain Genomics (CBG); Université de Rouen Normandie (UNIROUEN); Normandie Université (NU)-Normandie Université (NU)-Institute for Research and Innovation in Biomedicine (IRIB); Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Rouen Normandie (UNIROUEN); Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut National de la Santé et de la Recherche Médicale (INSERM); CHU Rouen; Normandie Université (NU); Centre de Recherches en Cancérologie de Toulouse (CRCT); Université Toulouse III - Paul Sabatier (UT3); Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Communauté d'universités et établissements de Toulouse (Comue de Toulouse)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS); CIC - HEGP (CIC 1418); Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Européen Georges Pompidou APHP (HEGP); Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Hôpitaux Universitaires Paris Ouest - Hôpitaux Universitaires Île de France Ouest (HUPO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité); Service de biostatistique et d'épidémiologie (SBE); Direction de la recherche clinique Gustave Roussy; Institut Gustave Roussy (IGR)-Institut Gustave Roussy (IGR); Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon); Service Pédiatrie - Imagerie médicale CHU Toulouse; Pôle imagerie médicale CHU Toulouse; Centre Hospitalier Universitaire de Toulouse (CHU Toulouse)-Centre Hospitalier Universitaire de Toulouse (CHU Toulouse); Communauté d'universités et établissements de Toulouse (Comue de Toulouse); Centre Léon Bérard Lyon; Hôpital de la Timone CHU - APHM (TIMONE); Aix Marseille Université (AMU); Prédicteurs moléculaires et nouvelles cibles en oncologie (PMNCO (U981)); Institut Gustave Roussy (IGR)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris-Saclay; Département de biologie et pathologie médicales Gustave Roussy; Centre Régional de Lutte contre le Cancer Oscar Lambret Lille (UNICANCER/Lille); Université de Lille-UNICANCER; Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy); Immunologie anti-tumorale et immunothérapie des cancers (ITIC (U1015)); Hôpital Arnaud de Villeneuve CHU Montpellier; Centre Hospitalier Régional Universitaire Montpellier (CHRU Montpellier); CHU Trousseau APHP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU); Service d'immuno-hématologie pédiatrique CHU Necker; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Necker - Enfants Malades AP-HP; Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP) |
| Source: |
ISSN: 1545-5009. |
| Publisher Information: |
CCSD; Wiley |
| Publication Year: |
2024 |
| Collection: |
Université Toulouse III - Paul Sabatier: HAL-UPS |
| Subject Terms: |
osteosarcoma; predisposition; periosteal osteosarcoma; osteosarcomatosis; jaw osteosarcoma; chondroblastic osteosarcoma; TP53 variants; Li–Fraumeni syndrome; [SDV.CAN]Life Sciences [q-bio]/Cancer; [SHS.STAT]Humanities and Social Sciences/Methods and statistics; [STAT]Statistics [stat]; [STAT.OT]Statistics [stat]/Other Statistics [stat.ML]; [STAT.ME]Statistics [stat]/Methodology [stat.ME] |
| Description: |
International audience ; Purpose: Describe clinical characteristics and outcome of Li-Fraumeni syndrome (LFS)-associated osteosarcomas.Methods: TP53 germline pathogenic/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identified via the French Li-Fraumeni database at Rouen University Hospital. Sixty-five osteosarcomas in 52 patients with available clinical and histological data were included. The main clinical characteristics were compared with data from National Cancer Institute's SEER (Surveillance, Epidemiology, and End Results) for patients of the same age group.Results: Median age at first osteosarcoma diagnosis was 13.7 years (range: 5.9-36.7). Compared to unselected osteosarcomas, LFS-associated osteosarcomas occurred more frequently in patients less than 10 years of age (23% vs. 9%), and when compared with osteosarcomas in patients less than 25 years were characterized by an excess of axial (16% vs. 10%) and jaw sites (15% vs. 3%) and histology with predominant chondroblastic component and periosteal subtypes (17% vs. 1%). Metastases incidence (25%) was as expected in osteosarcomas. After the first osteosarcoma treatment, the rate of good histologic response (62%) and the 5-year progression-free survival (55%, 95% confidence interval [CI]: 42.6-71.1) were as expected in unselected series of osteosarcomas, whereas the 5-year event-free survival was 36.5% [95% CI: 25.3-52.7] due to the high incidence of second malignancies reaching a 10-year cumulative risk of 43.4% [95% CI: 28.5-57.5].Conclusion: In osteosarcoma, young age at diagnosis, axial and jaw sites, histology with periosteal or chondroblastic subtype, and synchronous multifocal tumors should prompt suspicion of a germline TP53 mutation. Standard treatments are effective, but multiple malignancies impair prognosis. Early recognition of these patients is crucial for tailored therapy and follow-up. |
| Document Type: |
article in journal/newspaper |
| Language: |
English |
| Relation: |
info:eu-repo/semantics/altIdentifier/pmid/39387369; PUBMED: 39387369 |
| DOI: |
10.1002/pbc.31362 |
| Availability: |
https://inserm.hal.science/inserm-04965400; https://inserm.hal.science/inserm-04965400v1/document; https://inserm.hal.science/inserm-04965400v1/file/2024_Abbas_PediatrBloodCancer.pdf; https://doi.org/10.1002/pbc.31362 |
| Rights: |
https://creativecommons.org/licenses/by-nc/4.0/ ; info:eu-repo/semantics/OpenAccess |
| Accession Number: |
edsbas.EFD79F8 |
| Database: |
BASE |