Genetic Factors contributing to Late Adverse Musculoskeletal Effects in Childhood Acute Lymphoblastic Leukemia Survivors (Supplemental material).

A substantial number of survivors of childhood acute lymphoblastic leukemia (ALL) suffer from treatment-related late adverse effects. While multiple studies have identified the effects of chemotherapeutics and radiation therapy on musculoskeletal outcomes, few have investigated their associations with genetic factors.

Here we analyzed musculoskeletal complications in relation to common and rare genetic variants derived through whole-exome sequencing of the PETALE cohort. Top-ranking associations were further assessed through stratified and multivariate analyses.

This study identified novel genetic variants associated with long-term musculoskeletal impairments in childhood ALL survivors that might lead to personalized prophylactic or therapeutic strategies.