Management of Paediatric Cancers Associated With Bloom Syndrome

IF 3.7 2区医学 Q2 GENETICS & HEREDITY

Human Mutation Pub Date : 2025-07-03 DOI:10.1155/humu/7065233

Camille Pacaud, Charlotte Nazon, Mélanie Pages, Jérémie Rouger, Pascale Berthet, Sarah Winter, Éric Thebault, Cécile Faure-Conter, Claire Berger, Catherine Paillard

引用次数: 0

Abstract

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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与布鲁姆综合征相关的儿科癌症的处理

布卢姆综合征（BS）是一种罕见的遗传性疾病，与癌症风险升高有关。在一项国家多中心研究中，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名在癌症检测前被诊断为BS。6例为实体瘤，3例为血液学恶性肿瘤。其中6人接受综合化疗，通常减少剂量。并发症包括延长发育不全，败血症和早期停止治疗。2例患者接受放疗。四人复发，四人死亡，其中一人中毒死亡。然而，5例患者获得缓解，这表明尽管存在显著的毒性，但仍有治愈性治疗的可能性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Human Mutation 医学-遗传学

CiteScore

8.40

自引率

5.10%

发文量

190

审稿时长

2 months

期刊介绍： Human Mutation is a peer-reviewed journal that offers publication of original Research Articles, Methods, Mutation Updates, Reviews, Database Articles, Rapid Communications, and Letters on broad aspects of mutation research in humans. Reports of novel DNA variations and their phenotypic consequences, reports of SNPs demonstrated as valuable for genomic analysis, descriptions of new molecular detection methods, and novel approaches to clinical diagnosis are welcomed. Novel reports of gene organization at the genomic level, reported in the context of mutation investigation, may be considered. The journal provides a unique forum for the exchange of ideas, methods, and applications of interest to molecular, human, and medical geneticists in academic, industrial, and clinical research settings worldwide.