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Considerations for radiotherapy in Bloom Syndrome: A case series
M H D Schoenaker1, S Takada2, M van Deuren3
1Department of Pediatric Neurology, Amalia Children's Hospital, Radboud University Medical Center, Nijmegen, the Netherlands; Laboratory for Immunology, Department of Pediatrics, Leiden University Medical Center, Leiden, the Netherlands.
European Journal of Medical Genetics
|August 5, 2021
Summary
Bloom Syndrome (BS) patients with solid tumors tolerated radiotherapy well. Laboratory tests indicate BS cells are not as radiosensitive as other DNA repair disorders, challenging contraindications for radiation therapy.
Area of Science:
- Genetics
- Oncology
- Radiation Biology
Background:
- Bloom Syndrome (BS) is a genetic disorder characterized by DNA repair defects, immunodeficiency, and a high cancer risk.
- The safety and efficacy of radiotherapy in BS patients with malignancies remain unclear due to a lack of clinical and laboratory data.
- Existing beliefs suggest increased toxicity with radiotherapy and chemotherapy in BS patients.
Observation:
- Two Dutch BS patients with solid tumors received radiotherapy prior to diagnosis and experienced good tolerance.
- In vitro studies using patient-derived fibroblasts demonstrated reduced radiosensitivity in BS cells compared to Artemis fibroblasts.
- Analysis of 53BP1 foci after irradiation revealed double-strand break repair kinetics similar to healthy controls.
Findings:
- Clinical observations and laboratory assays suggest that radiotherapy may be better tolerated in BS patients than previously assumed.
- BS fibroblasts exhibit less radiosensitivity than cells from other DNA repair syndromes like Artemis.
- DNA double-strand break repair kinetics in BS cells are comparable to those in healthy individuals.
Implications:
- These findings challenge the absolute contraindication of radiotherapy for Bloom Syndrome patients.
- Further investigation into radiotherapy protocols for BS patients with malignancies is warranted.
- This research contributes valuable data to the ongoing discussion regarding cancer treatment strategies for rare genetic disorders.
