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与肾母细胞瘤相关的先天性异常和临床特征:来自一个服务大量人群中心的综合研究

Congenital abnormalities and clinical features associated with Wilms' tumour: a comprehensive study from a centre serving a large population.

作者信息

Ng A, Griffiths A, Cole T, Davison V, Griffiths M, Larkin S, Parkes S E, Mann J R, Grundy R G

机构信息

Department of Paediatric Oncology, Birmingham Children's Hospital, B4 6NH, UK.

出版信息

Eur J Cancer. 2007 Jun;43(9):1422-9. doi: 10.1016/j.ejca.2007.03.020. Epub 2007 May 17.

Abstract

Altogether 156 children treated for Wilms' tumour (WT) between 1970 and 1998 were studied. Sixty-six children, selected only by their attendance at clinic, were carefully examined and the findings compared to those from a case note review of 90 children. Congenital abnormalities were present in 45% of the examined cohort, in 19% of the case notes review group and in 30% overall. Novel findings included the association of WT with Marshall Smith syndrome, developmental delay in 3 of 4 cases of WT (one bilateral) and 1 sibling from consanguineous Pakistani families and another sibling also had leukaemia. The possibility of rare DNA repair or cancer predisposing disorders among these 4 families requires further study. Careful examination and history taking of an unselected patient cohort revealed a higher than expected incidence of clinical abnormalities which may be overlooked if not specifically sought.

摘要

对1970年至1998年间接受威尔姆斯瘤(WT)治疗的156名儿童进行了研究。仅根据到诊所就诊情况挑选出66名儿童进行仔细检查,并将检查结果与对90名儿童病历回顾的结果进行比较。在所检查的队列中,45%的儿童存在先天性异常,病历回顾组中这一比例为19%,总体为30%。新发现包括WT与马歇尔·史密斯综合征的关联、4例WT患儿(1例双侧发病)中有3例发育迟缓,1例来自近亲巴基斯坦家庭的同胞以及另1例同胞也患有白血病。这4个家庭中存在罕见DNA修复或癌症易感疾病的可能性需要进一步研究。对未经过挑选的患者队列进行仔细检查和病史采集发现,临床异常的发生率高于预期,如果不专门查找,这些异常可能会被忽视。

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