Management of Paediatric Cancers Associated With Bloom Syndrome

• Published in: Human mutation Vol. 2025; no. 1; p. 7065233
• Main Authors: Pacaud, Camille, Nazon, Charlotte, Pages, Mélanie, Rouger, Jérémie, Berthet, Pascale, Winter, Sarah, Thebault, Éric, Faure-Conter, Cécile, Berger, Claire, Paillard, Catherine
• Format: Journal Article
• Language: English
• Published: United States John Wiley & Sons, Inc 01.01.2025; Wiley
• Subjects: Adolescent; Age; Antineoplastic Combined Chemotherapy Protocols - adverse effects; Antineoplastic Combined Chemotherapy Protocols - therapeutic use; Biopsy; Bloom Syndrome - complications; Bloom Syndrome - diagnosis; Bloom Syndrome - genetics; Bloom Syndrome - therapy; Bloom's syndrome; Bone cancer; Brain cancer; Cancer therapies; Chemotherapy; Child; Child, Preschool; Colorectal cancer; Disease Management; Female; Human papillomavirus; Humans; Infections; Lymphoma; Male; Medical diagnosis; Microcephaly; Mutation; Neoplasms - complications; Neoplasms - diagnosis; Neoplasms - therapy; Neutropenia; Patients; Pediatrics; Radiation therapy; Remission (Medicine); Stem cell transplantation; Surgery; Surveillance; Toxicity; France; toxicity; chromosomal breakage syndrome; Bloom syndrome; treatment modalities; paediatric cancer
• ISSN: 1059-7794; 1098-1004; 1098-1004
• DOI: 10.1155/humu/7065233

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.