Rhabdoid tumors in patients conceived following ART: is there an association?

This article investigates clinical, therapeutic, and (epi-)genetic differences in children with rhabdoid tumors (RT) conceived via assisted reproduction technologies (ART) compared to those conceived naturally. Analyzing 14 RT cases conceived by ART (RT_ART) from multiple countries and comparing them to 211 RT cases without ART from the EU-RHAB registry, the study found a significant female predominance and a lower median age at diagnosis (9 vs. 16 months) in the RT_ART group. No significant differences were observed in tumor location, metastatic stage, presence of pathogenic germline SMARCB1 variants, treatment modalities, survival outcomes, or DNA methylation patterns, including imprinting defects, between the two groups. The findings suggest that while RT_ART patients show distinct sex and age characteristics, other clinical and molecular features align with those of RT patients conceived without ART, highlighting the need for further research to understand the female predominance in RT_ART cases.