Moutou C, Hochez J, Chompret A, Tournade M F, Le Bihan C, Zucker J M, Lemerle J, Bonaïti-Pellié C
Unité de Recherches d'Epidémiologie Génétique, INSERM U155, Paris, France.
J Med Genet. 1994 Jun;31(6):429-34. doi: 10.1136/jmg.31.6.429.
Wilms' tumour of the kidney is known to occur in Beckwith-Wiedemann syndrome. It has also been described in four cancer prone families displaying Li-Fraumeni syndrome but it is not usually considered to be part of this syndrome. In order to detect particular familial cancer aggregations associated with this tumour, we studied the cancer incidence and mortality among relatives of the 501 Wilms' tumour patients in the French Wilms' Tumour Study. We found no familial association with breast cancer or soft tissue sarcomas which are the most common cancers in the Li-Fraumeni syndrome. However, we found two significant familial associations of Wilms' tumour with bone cancers on the one hand and with brain tumours on the other hand. These associations could reflect a small proportion of families segregating for some susceptibility gene. This should then be confirmed at the molecular level.
已知肾母细胞瘤会发生于贝克威思-维德曼综合征患者中。在四个表现出李-佛美尼综合征的癌症易感家族中也有该病症的描述,但通常不认为它是该综合征的一部分。为了检测与这种肿瘤相关的特定家族性癌症聚集情况,我们对法国肾母细胞瘤研究中501名肾母细胞瘤患者的亲属的癌症发病率和死亡率进行了研究。我们未发现与乳腺癌或软组织肉瘤存在家族性关联,而乳腺癌和软组织肉瘤是李-佛美尼综合征中最常见的癌症。然而,我们发现肾母细胞瘤一方面与骨癌、另一方面与脑肿瘤存在两个显著的家族性关联。这些关联可能反映了一小部分家族中存在某些易感基因的分离情况。这随后应在分子水平上得到证实。