Pathogenic Germline PALB2 and RAD50 Variants in Patients With Relapsed Ewing Sarcoma
Abstract
Approximately 10% of patients with Ewing sarcoma (EwS) have pathogenic germline variants. Here, we report two cases: first, a novel germline pathogenic variant in partner and localizer of BRCA2 (PALB2) in a patient with a late EwS relapse. Its impact on homologous recombination is demonstrated, and breast cancer risk is discussed. Second, we report a pathogenic germline variant in RAD50 in a patient with a rare prostate primary EwS and later concurrent relapsed EwS and therapy-related acute myeloid leukemia (tAML) with two rare KMT2A translocations. Understanding rare pathogenic germline variants and the impact on cancer behavior, response to treatment and treatment-associated toxicities is important for patients.
Fields of Study & Subjects
BRCA gene mutations in cancer
Sarcoma Diagnosis and Treatment
Multiple and Secondary Primary Cancers
Publication details
- Journal / source
- Pediatric Blood & Cancer
- Volume
- 73
- Issue
- 3
- Pages
- e70122–e70122
- Publication date
- 18 January 2026
- Language
- EN