Post-zygotic mosaicism of SMARCB1 variants in patients with rhabdoid tumors: a not so rare condition exposing to successive tumors.
Grégory ThomsonMathilde FilserLéa Guerrini-RousseauArnault Tauziede-EspariatChristine BourneixMarion Gauthier-VillarsFatoumata SimagaKevin BeccariaCécile Faure-ConterAurélien MaureilleHélène Zattara-CannoniNicolas AndreNatacha Entz-WerléLaurence BrugieresLudovic MansuyPhilippe DenizeauSophie JuliaOlivier IngsterSophie LejeuneAfane BrahimiIsabelle CoupierValérie BonadonaOlivier O DelattreJulien Masliah PlanchonFranck BourdeautPublished in: Neuro-oncology (2024)
The hitherto underestimated rate of SMARCB1 mosaicism in RT underscores the need for optimized genetic counseling and oncological monitoring. The findings have significant medical implications, considering the dire prognosis of RT.