Related Experiment Video
Updated: Aug 10, 2026

Defining Gene Functions in Tumorigenesis by Ex vivo Ablation of Floxed Alleles in Malignant Peripheral Nerve Sheath Tumor Cells
Published on: August 25, 2021
Concurrent Germline RB1 & Mosaic TP53 in a Child With Multiple Childhood Cancers
Ole Haubjerg Nielsen1, Ulrik Kristoffer Stoltze1,2, Pernille Axél Gregersen3,4,5
1Department of Pediatrics and Adolescent Medicine, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
A child with a germline RB1 variant and somatic TP53 mosaicism developed retinoblastoma, osteosarcoma, and myelodysplastic syndrome. This case highlights complex genetic predispositions to early-onset cancers.
Area of Science:
- Oncology
- Genetics
- Pediatrics
Background:
- Germline RB1 variants are associated with retinoblastoma.
- Somatic TP53 variants can contribute to various cancers.
- Digenic cancer predisposition may increase risk and alter disease presentation.
Related Concept Videos
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Abnormal Proliferation
Cancers Originate from Somatic Mutations in a Single Cell
Cancers Originate from Somatic Mutations in a Single Cell
Rous Sarcoma Virus (RSV) and Cancer
RSV is a retrovirus that contains two copies of a plus-strand RNA genome. Its genome consists of four main open...