loading page

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
Author Profile
Gaëlle BOUGEARD
Universite de Rouen Normandie

Corresponding Author:gaelle.bougeard-denoyelle@univ-rouen.fr

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

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