Clinical and genetic characteristics of children with acute lymphoblastic leukemia and Li–Fraumeni syndrome
Greta Winter, Renate Kirschner‐Schwabe, Stefanie Groeneveld‐Krentz, Gabriele Escherich, Anja Möricke, Arend von Stackelberg, Martin Stanulla, Simon Bailey, Lisa Richter, Doris Steinemann, Tim Ripperger, Adela Escudero, Roula Farah, Olli Lohi, Karin Wadt, Marjolijn C.J. Jongmans, Nienke van Engelen, Cornelia Eckert, Christian P. Kratz
Abstract
Approximately 10% of cases of childhood cancer arise in the context of a cancer predisposition syndrome (CPS) Among the rare CPS, Li-Fraumeni syndrome (LFS, MIM#151623) is relatively common and estimated to account for >1% of cases of childhood cancer LFS is a dominantly inherited condition caused by pathogenic germline variants in the TP53 tumor suppressor gene Children with LFS are predisposed to a range of neoplasms such as osteosarcoma, adrenocortical carcinoma, medulloblastoma, choroid plexus carcinoma, anaplastic rhabdomyosarcoma, and (frequently hypodiploid) acute lymphoblastic leukemia (LFS-ALL) Notably,