Considerations for radiotherapy in Bloom Syndrome: A case series

Bloom Syndrome (BS) is a genetic DNA repair disorder, caused by mutations in the BLM gene. The clinical phenotype includes growth retardation, immunodeficiency and strong predisposition to different types of malignancies. Treatment malignancies BS patients with radiotherapy or chemotherapy believed be associated increased toxicity, but laboratory data are lacking. We collected two Dutch solid tumors. Both were treated before diagnosis was made tolerated this treatment well. In addition, we fibroblasts from perform vitro clonogenic survival assays determine radiosensitivity. showed less radiosensitivity than severely radiosensitive Artemis fibroblasts. Moreover, studies double strand break kinetics counting 53BP1 foci after irradiation similar patterns compared healthy controls. combination, cases experiments valuable information discussion whether absolutely contraindicated BS, which Case other syndromes like Ataxia Telangiectasia Artemis.