{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T22:25:40Z","timestamp":1790807140603,"version":"4.1.0"},"reference-count":48,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T00:00:00Z","timestamp":1728518400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"published-print":{"date-parts":[[2024,12]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Purpose<\/jats:title>\n                    <jats:p>Describe clinical characteristics and outcome of Li\u2013Fraumeni syndrome (LFS)\u2010associated osteosarcomas.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      <jats:italic>TP53<\/jats:italic>\n                      germline pathogenic\/likely pathogenic variant carriers diagnosed with osteosarcoma in France between 1980 and 2019 were identified via the French Li\u2013Fraumeni database at Rouen University Hospital. Sixty\u2010five 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.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>Median age at first osteosarcoma diagnosis was 13.7\u00a0years (range: 5.9\u201336.7). Compared to unselected osteosarcomas, LFS\u2010associated osteosarcomas occurred more frequently in patients less than 10\u00a0years of age (23% vs. 9%), and when compared with osteosarcomas in patients less than 25\u00a0years 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\u2010year progression\u2010free survival (55%, 95% confidence interval [CI]: 42.6\u221271.1) were as expected in unselected series of osteosarcomas, whereas the 5\u2010year event\u2010free survival was 36.5% [95% CI: 25.3\u221252.7] due to the high incidence of second malignancies reaching a 10\u2010year cumulative risk of 43.4% [95% CI: 28.5\u221257.5].<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>TP53<\/jats:italic>\n                      mutation. Standard treatments are effective, but multiple malignancies impair prognosis. Early recognition of these patients is crucial for tailored therapy and follow\u2010up.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/pbc.31362","type":"journal-article","created":{"date-parts":[[2024,10,10]],"date-time":"2024-10-10T10:04:15Z","timestamp":1728554655000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":13,"title":["Li\u2013Fraumeni\u2010associated osteosarcomas: The French experience"],"prefix":"10.1002","volume":"71","author":[{"given":"Emilie","family":"Saucier","sequence":"first","affiliation":[{"name":"Department of Children and Adolescents Oncology Gustave Roussy Cancer, Paris\u2010Saclay University  Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1475-0254","authenticated-orcid":false,"given":"Ga\u00eblle","family":"Bougeard","sequence":"additional","affiliation":[{"name":"Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne","family":"Gomez\u2010Mascard","sequence":"additional","affiliation":[{"name":"Department of Pathology, CHU, IUCT\u2010Oncopole, University of Toulouse, Eq19. ONCOSARC CRCT, UMR 1037 Inserm\/UT3, ERL 5294 CNRS  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Catherine","family":"Schramm","sequence":"additional","affiliation":[{"name":"Univ Rouen Normandie, Inserm U1245, Normandie Univ, CHU Rouen, Department of Genetics  Rouen France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9737-4548","authenticated-orcid":false,"given":"Rachid","family":"Abbas","sequence":"additional","affiliation":[{"name":"Department of Biostatistics and Epidemiology Gustave Roussy, Paris\u2010Saclay University  Villejuif France"},{"name":"Inserm Clinical Trial Unit 1418 (CIC1418) Clinical Epidemiology  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1110-7789","authenticated-orcid":false,"given":"Pablo","family":"Berlanga","sequence":"additional","affiliation":[{"name":"Department of Children and Adolescents Oncology Gustave Roussy Cancer, Paris\u2010Saclay University  Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claire","family":"Briandet","sequence":"additional","affiliation":[{"name":"Department of Pediatric Haematology\u2010Oncology Dijon University Hospital  Dijon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie\u2010Pierre","family":"Castex","sequence":"additional","affiliation":[{"name":"Pediatric Immuno\u2010Oncohaematology Unit Children's Hospital  Toulouse France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nad\u00e8ge","family":"Corradini","sequence":"additional","affiliation":[{"name":"Department of Paediatric Oncology Institut d'Hematologie et d'Oncologie P\u00e9diatrique, Centre L\u00e9on B\u00e9rard  Lyon France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carole","family":"Coze","sequence":"additional","affiliation":[{"name":"Department of Pediatric Oncology Hopital la Timone, APHM, Marseille Aix University  Marseille France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"L\u00e9a","family":"Guerrini\u2010Rousseau","sequence":"additional","affiliation":[{"name":"Department of Children and Adolescents Oncology Gustave Roussy Cancer, Paris\u2010Saclay University  Villejuif France"},{"name":"Inserm U981 Paris Saclay University  Villejuif France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jean\u2010Marc","family":"Guinebreti\u00e8re","sequence":"additional","affiliation":[{"name":"Department of Pathology Curie Site Saint Cloud  Paris France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2422-2121","authenticated-orcid":false,"given":"Pierre","family":"Khneisser","sequence":"additional","affiliation":[{"name":"Department of Pathology Gustave Roussy  Villejuif France"},{"name":"Inserm U1015 Paris Saclay University  Villejuif 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