The relationship between nephroblastoma and neurofibromatosis (Von Recklinghausen's disease)

Abstract

Three cases with co-existent Wilm's tumor and Von Recklinghausen's Disease from a series of 342 nephroblastomas are discussed as to the significance of this association. Biological arguments favor a positive link because of the multiplicity of associative lesions which parallel each other, the co-existence of which suggests a common genetic bond. An embryologic association is described whereby early mutational events, i.e. neural induction of nephrogenesis, may link these two entities in utero. Further interconnection is stated statistically, in that nephroblastoma patients in this series had a 29 fold higher incidence of multiple neurofibromatosis than predicted for in the general population. The co-existent diseases in the three cases observed are approximately 33-50% more than can be accounted for by chance in the United States population. Malignant transformation in neurofibromatosis is discussed because of the therapeutic implications presented by two of the three Wilms' tumor patients studied.