Pernille Axél Gregersen

Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers

ABSTRACT We report a patient with a pathogenic germline variant (PGV) in RB1 and somatic mosaicism for a pathogenic TP53 variant who developed three distinct types of childhood cancer: retinoblastoma, osteosarcoma, and myelodysplastic syndrome (MDS) before the age of 6 years. The...