Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience

Morgane Pondrom , Gaëlle Bougeard (1) , Marie Karanian (2) , Jacynthe Bonneau-Lagacherie , Cecile Boulanger (3) , Hélène Boutroux (4) , Claire Briandet (5) , Christine Chevreau (6) , Nadège Corradini (2) , Carole Coze (7) , Anne Sophie Defachelles , Louise Galmiche-Roland , Daniel Orbach , Christophe Piguet , Jean Yves Scoazec , Cécile Vérité , Marjolaine Willems , Thierry Frebourg (1) , Véronique Minard , Laurence Brugières , Jacynthe Bonneau‐lagacherie , Louise Galmiche‐roland

1 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
2 Centre Léon Bérard [Lyon]
3 CHU Toulouse - Centre Hospitalier Universitaire de Toulouse
4 UMRS893 - Centre de Recherche Saint-Antoine
5 MaRIH - Filière de santé Maladies rares immuno-hématologiques
6 Institut Claudius Regaud
7 TIMONE - Hôpital de la Timone [CHU - APHM]

To describe the clinical characteristics and outcome of patients with Li-Fraumeni-associated rhabdomyosarcoma (RMS).

Mots clés: second malignancy; TP53; Fraumeni; Li-Fraumeni syndrome; anaplastic rhabdomyosarcoma; chemotherapy; early detection; rhabdomyosarcoma

Domaines: Génétique humaine

Morgane Pondrom, Gaëlle Bougeard, Marie Karanian, Jacynthe Bonneau-Lagacherie, Cecile Boulanger, et al.. Rhabdomyosarcoma associated with germline TP53 alteration in children and adolescents: The French experience. Pediatric Blood and Cancer, 2020, 67 (9), pp.e28486. ⟨10.1002/pbc.28486⟩. ⟨hal-03106844⟩