Skotnicka-Klonowicz G, Rieske P, Bartkowiak J, Debiec-Rychter M
Klinika Chirurgii i Onkologii Dzieciecej Instytutu Pediatrii Akademii Medycznej w Łodzi.
Pol Merkur Lekarski. 2001 Feb;10(56):96-7.
Wilms' tumour can develop in ways: sporadic--non-hereditary or familial. Familial Wilms' tumour is not very seldom. It is a form of autosomal dominant segregation and probably low and variable penetration. Up to now it has not been observed in the presence of characteristic genetic changes. Taking into consideration the case of the patient with positive family interview we presented the way of diagnosing and treating the child. Moreover we presented the results of cytogenetic examination and molecular analyses (loss of heterozygosity of WT1 gene and loss of heterozygosity 16 q), which had not shown any changes. We also discussed the actual level of knowledge abut familial form of Wilms' tumour.
散发性——非遗传性或家族性。家族性肾母细胞瘤并不罕见。它是常染色体显性遗传分离的一种形式，可能具有较低且可变的外显率。到目前为止，尚未在有特征性基因改变的情况下观察到它。考虑到该患者家族史询问呈阳性的情况，我们介绍了对该患儿的诊断和治疗方法。此外，我们还展示了细胞遗传学检查和分子分析（WT1基因杂合性缺失和16q杂合性缺失）的结果，这些结果未显示任何变化。我们还讨论了关于肾母细胞瘤家族性形式的实际知识水平。
