Pacaud Camille, Nazon Charlotte, Pages Mélanie, Rouger Jérémie, Berthet Pascale, Winter Sarah, Thebault Éric, Faure-Conter Cécile, Berger Claire, Paillard Catherine
Pediatric Onco-Hematology-Immunology Unit, CHU Hautepierre University Hospital, Strasbourg, France.
Department of Genetics, Institut Curie, PSL Research University, Paris, France.
Hum Mutat. 2025 Jul 3;2025:7065233. doi: 10.1155/humu/7065233. eCollection 2025.
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.
布卢姆综合征（BS）是一种罕见的遗传性疾病，患癌风险较高。在一项全国性多中心研究中，对9名患有BS和癌症的儿科患者进行了分析。癌症诊断时的中位年龄为12岁。9名患者中有4名在癌症检测之前被诊断出患有BS。6名患者出现实体瘤，3名患有血液系统恶性肿瘤。6名患者接受了多药化疗，且常常减少剂量。并发症包括长期发育不全、败血症和早期治疗中断。2名患者接受了放疗。4名患者复发，4名患者死亡，其中包括1例因毒性反应导致的死亡。然而，5名患者实现了缓解，这突出表明尽管存在显著毒性，但仍有可能进行治愈性治疗。
