Beckwith-Wiedemann综合征(BWS),人类基因组印记障碍,以表型变异性为特征,可能包括过度生长,巨舌,腹壁缺损,新生儿低血糖,侧向过度生长和胚胎性肿瘤倾向。印迹11p15.5区域内的分子缺陷的描绘可以预测家族性复发风险和胚胎性肿瘤的风险(和类型)。尽管知识最近有所进步,在临床诊断标准和护理方面存在明显的异质性.正如本共识声明所详述的那样,一个国际共识小组就BWS的临床和分子诊断和管理的72项建议达成一致,包括分子研究的综合方案,患者从产前到成年的护理和治疗。共识建议适用于Beckwith-Wiedemann频谱(BWSp)患者,涵盖无分子诊断的经典BWS和具有11p15.5分子异常的BWS相关表型。尽管共识小组建议以分子亚组为目标的肿瘤监测计划,根据当地的医疗保健系统,监测可能会有所不同(例如,在美国),应前瞻性地评估有针对性和普遍监测的结果.国际合作,包括对执行这些共识建议的结果进行前瞻性审计,需要扩大设计最佳护理途径的证据基础。
Beckwith-Wiedemann syndrome (BWS), a human genomic imprinting disorder, is characterized by phenotypic variability that might include overgrowth, macroglossia, abdominal wall defects, neonatal hypoglycaemia, lateralized overgrowth and predisposition to embryonal tumours. Delineation of the molecular defects within the imprinted 11p15.5 region can predict familial recurrence risks and the risk (and type) of embryonal tumour. Despite recent advances in knowledge, there is marked heterogeneity in clinical diagnostic criteria and care. As detailed in this
Consensus Statement, an international
consensus group agreed upon 72 recommendations for the clinical and molecular diagnosis and management of BWS, including comprehensive protocols for the molecular investigation, care and treatment of patients from the prenatal period to adulthood. The
consensus recommendations apply to patients with Beckwith-Wiedemann spectrum (BWSp), covering classical BWS without a molecular diagnosis and BWS-related phenotypes with an 11p15.5 molecular anomaly. Although the
consensus group recommends a tumour surveillance programme targeted by molecular subgroups, surveillance might differ according to the local health-care system (for example, in the United States), and the results of targeted and universal surveillance should be evaluated prospectively. International collaboration, including a prospective audit of the results of implementing these
consensus recommendations, is required to expand the evidence base for the design of optimum care pathways.