Article Dans Une Revue Human Mutation Année : 2025

Management of Paediatric Cancers Associated With Bloom Syndrome

Résumé

Bloom syndrome (BS) is a rare genetic disorder associated with an elevated risk of cancer. In a national multicentre study, nine paediatric patients with BS and cancer were analysed. Median age at cancer diagnosis was 12 years. Four of the nine patients were diagnosed with BS prior to cancer detection. Six presented with solid tumours, whilst three had haematological malignancies. Six received polychemotherapy, often with dose reductions. Complications included prolonged aplasia, sepsis and early treatment discontinuation. Two patients received radiotherapy. Four relapsed, and four died, including one toxic death. However, five achieved remission, highlighting the possibility of curative treatment despite significant toxicities.

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hal-05261638 , version 1 (15-09-2025)

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Camille Pacaud, Charlotte Nazon, Mélanie Pages, Jérémie Rouger, Pascale Berthet, et al.. Management of Paediatric Cancers Associated With Bloom Syndrome. Human Mutation, 2025, 2025, pp.7065233. ⟨10.1155/humu/7065233⟩. ⟨hal-05261638⟩
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