Fiche publication
Date publication
mars 2026
Journal
JCO precision oncology
Auteurs
Membres identifiés du Cancéropôle Est :
Dr LUPORSI Elisabeth
Tous les auteurs :
Pegoraro F, Larcher L, Kim R, Pagès M, Passet M, Caye-Eude A, Fahd M, Brethon B, Hernandez L, Vasquez N, Da Costa M, Auger N, Lachaud C, de Tersant M, Luporsi E, Sébert M, Dalle JH, Peffault de Latour R, Clappier E, Stoppa-Lyonnet D, Leblanc T, Paillard C, Sicre de Fontbrune F, Soulier J
Lien Pubmed
Résumé
Fanconi anemia (FA) is a genetic disorder typically characterized by progressive bone marrow failure (BMF) during childhood, leading to diagnosis at that stage. In adolescence or adulthood, patients are predisposed to myelodysplastic syndrome (MDS), acute myeloid leukemia, and solid tumors. However, some individuals present atypically, delaying FA recognition and resulting in life-threatening complications. This study describes the distinctive phenotype associated with biallelic pathogenic variants.
Mots clés
Humans, Fanconi Anemia, genetics, Male, Female, Adult, Young Adult, Adolescent, Child, DNA Helicases, genetics, Neoplasms, genetics, Precursor Cell Lymphoblastic Leukemia-Lymphoma, genetics, Genetic Predisposition to Disease
Référence
JCO Precis Oncol. 2026 03;10(3):e2501089
