title: Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.
abstract: We report on a girl affected with tuberous sclerosis, carrying a germline de novo TSC2 mutation, c.4934-4935delTT, leading to a p.F1645CfsX7, who developed a unilateral Wilms tumor (WT). Molecular investigation of the tumor biopsy at diagnosis revealed the loss of the constitutional wild-type TSC2 allele, and loss of heterozygosity for the WT1 gene. Deletion of the WTX gene was also present, but it involved the functionally inactive X chromosome. No mutation affecting the remaining WT1 and WTX alleles, as well as the CTNNB1 gene was found. Pathological examination of the surgical specimen documented the presence of diffuse anaplasia and p53 immunoreactivity. To the best of our knowledge, this is the second report of a patient with tuberous sclerosis who developed a WT, and it represents the first case in which a detailed clinical and molecular description is provided.
authors.affiliation: Pediatric Oncology Unit, Department of Medical Oncology, Fondazione IRCCS Istituto Nazionale dei Tumori, Milano, Italy.
authors.forename: Filippo
authors.initials: F
authors.lastname: Spreafico
authors.forename: Lucia Dora
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Richard Fabian
authors.initials: RF
authors.lastname: Schumacher
authors.forename: Gianfranco
authors.initials: G
authors.lastname: Savoldi
authors.forename: Beatrice
authors.initials: B
authors.lastname: Gamba
authors.forename: Monica
authors.initials: M
authors.lastname: Terenziani
authors.forename: Paola
authors.initials: P
authors.lastname: Collini
authors.forename: Silvia
authors.initials: S
authors.lastname: Fasoli
authors.forename: Lucio
authors.initials: L
authors.lastname: Giordano
authors.forename: Bercich
authors.initials: B
authors.lastname: Luisa
authors.forename: Fulvio
authors.initials: F
authors.lastname: Porta
authors.forename: Maura
authors.initials: M
authors.lastname: Massimino
authors.forename: Paolo
authors.initials: P
authors.lastname: Radice
authors.forename: Daniela
authors.initials: D
authors.lastname: Perotti
mesh_terms: D001483:Base Sequence / Q000235:genetics*; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D006652:Histological Techniques; D006801:Humans; D019656:Loss of Heterozygosity; D008969:Molecular Sequence Data; D010641:Phenotype; D017384:Sequence Deletion / Q000235:genetics*; D014402:Tuberous Sclerosis / Q000150:complications / Q000235:genetics* / Q000473:pathology; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins / Q000235:genetics*; D025721:WT1 Proteins / Q000235:genetics; D009396:Wilms Tumor / Q000209:etiology / Q000473:pathology*
chemical_list: C000624653:TSC2 protein, human; D000077005:Tuberous Sclerosis Complex 2 Protein; D025521:Tumor Suppressor Proteins; D025721:WT1 Proteins