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Li-Fraumeni associated osteosarcomas: the French experience.
  • +21
  • Saucier E,
  • Gaëlle BOUGEARD,
  • Gomez-Mascard Anne,
  • Schramm C,
  • Rachid Abbas,
  • Pablo Berlanga,
  • Claire Briandet,
  • Marie-Pierre Castex,
  • Nadège Corradini,
  • Carole Coze,
  • Léa Guerrini-Rousseau,
  • Guinebretière JM,
  • Pierre KHNEISSER,
  • Cyril Lervat,
  • Ludovic Mansuy,
  • Perrine Marec-Berard,
  • aude marie-cardine,
  • Mascard E,
  • Laure Saumet,
  • Marie-Dominique Tabone,
  • Winter S,
  • Frebourg T,
  • Nathalie Gaspar,
  • Laurence Brugieres
Saucier E
Gustave Roussy
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Gaëlle BOUGEARD
Universite de Rouen Normandie

Corresponding Author:[email protected]

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Gomez-Mascard Anne
Centre de recherche en cancerologie de Toulouse
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Schramm C
Universite de Rouen Normandie
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Rachid Abbas
Gustave Roussy
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Pablo Berlanga
Gustave Roussy
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Claire Briandet
Centre Hospitalier Universitaire de Dijon Service de Pediatrie Enfants Hematologie Oncologie
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Marie-Pierre Castex
Hopital des Enfants
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Nadège Corradini
Institut d'Hematologie et d'Oncologie Pediatrique
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Carole Coze
Hopital de la Timone
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Léa Guerrini-Rousseau
Gustave Roussy
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Guinebretière JM
Institut Curie Centre de Recherche
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Pierre KHNEISSER
Gustave Roussy
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Cyril Lervat
Centre Oscar Lambret
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Ludovic Mansuy
Centre Hospitalier Regional Universitaire de Nancy Hopitaux de Brabois
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Perrine Marec-Berard
Institut d'Hematologie et d'Oncologie Pediatrique
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aude marie-cardine
Centre Hospitalier Universitaire de Rouen
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Mascard E
Hopital Universitaire Necker-Enfants Malades
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Laure Saumet
Centre Hospitalier Universitaire de Montpellier
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Marie-Dominique Tabone
Hopital Armand-Trousseau Service d'Hematologie et d'Oncologie Pediatrique
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Winter S
Institut Curie Centre de Recherche
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Frebourg T
Universite de Rouen Normandie
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Nathalie Gaspar
Gustave Roussy
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Laurence Brugieres
Gustave Roussy
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Abstract

Purpose : Describe clinical characteristics and outcome of Li-Fraumeni-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 the SEER (National Cancer Institute’s 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 <10 years (23% versus 9%) and, when compared with osteosarcomas in patients <25 years were characterized by an excess of axial (16% versus 10%) and jaw sites (15% versus 3%) and histology with predominant chondroblastic component (35% versus 16%) and periosteal subtypes (17% versus 1%). Metastases incidence (25%) was as expected in unselected osteosarcomas. After the first osteosarcoma treatment, the rate of good histologic response (62%) and the 5-year progression-free survival (55%[95%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 55.3%[95%CI:34.3-69.5]. 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.
Submitted to Pediatric Blood & Cancer
12 Jun 2024Submission Checks Completed
12 Jun 2024Assigned to Editor
13 Jun 2024Reviewer(s) Assigned
10 Jul 2024Review(s) Completed, Editorial Evaluation Pending
13 Jul 2024Editorial Decision: Revise Major
28 Aug 2024Submission Checks Completed
28 Aug 2024Assigned to Editor
28 Aug 20241st Revision Received
28 Aug 2024Review(s) Completed, Editorial Evaluation Pending
28 Aug 2024Reviewer(s) Assigned
18 Sep 2024Editorial Decision: Accept