title: Wilms tumor in monozygous twins: clinical, pathological, cytogenetic and molecular case report.
abstract: The concomitant occurrence of Wilms tumor (WT) was observed in two monozygotic twin sisters without evidence of congenital malformations. Twin 1 was diagnosed with a stage I WT at 11 months of age, whereas twin 2 developed a bilateral (stage V) WT at 13 months of age. In both cases pathologic examination showed a nonanaplastic stromal type WT, with marked rhabdomyomatous elements. Cytogenetic analyses performed on blood samples and on tumor specimens revealed no karyotypic abnormality. No alteration of the WT1 and POU6F2 genes was identified in constitutional and tumor DNA of both sisters, and no anomaly in WT1 expression was evidenced in the normal kidney of one of them. However, loss of heterozygosity on chromosome 11p, involving the alleles of maternal origin, was detected both in the single tumor of twin 1 and in the two distinct tumors of twin 2, thus suggesting a common etiology of the diseases. To the authors' knowledge, this is the first report describing at both the clinical and genetic level a couple of monozygotic twins concordant for WT development.
authors.affiliation: Department of Experimental Oncology and Laboratories, Istituto Nazionale Tumori, Milan, Italy. daniela.perotti@istitutotumori.mi.it
authors.forename: Daniela
authors.initials: D
authors.lastname: Perotti
authors.forename: Giovanna De
authors.initials: GD
authors.lastname: Vecchi
authors.forename: Elena
authors.initials: E
authors.lastname: Lualdi
authors.forename: M Adele
authors.initials: MA
authors.lastname: Testi
authors.forename: Gabriella
authors.initials: G
authors.lastname: Sozzi
authors.forename: Paola
authors.initials: P
authors.lastname: Collini
authors.forename: Filippo
authors.initials: F
authors.lastname: Spreafico
authors.forename: Monica
authors.initials: M
authors.lastname: Terenziani
authors.forename: Franca
authors.initials: F
authors.lastname: Fossati-Bellani
authors.forename: Paolo
authors.initials: P
authors.lastname: Radice
mesh_terms: D002675:Child, Preschool; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics; D020732:Cytogenetic Analysis; D004200:Diseases in Twins / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007680:Kidney Neoplasms / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008297:Male; D050809:POU Domain Factors / Q000235:genetics; D012333:RNA, Messenger / Q000378:metabolism; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014430:Twins, Monozygotic / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics; D009396:Wilms Tumor / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*
chemical_list: D050809:POU Domain Factors; C098906:POU6F2 protein, human; D012333:RNA, Messenger; D025721:WT1 Proteins