Article
Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex.
American journal of medical genetics. Part A - 1 Jun 2011
Spreafico Filippo, Notarangelo Lucia Dora, Schumacher Richard Fabian, Savoldi Gianfranco, Gamba Beatrice, Terenziani Monica, Collini Paola, Fasoli Silvia, Giordano Lucio, Luisa Bercich, Porta Fulvio, Massimino Maura, Radice Paolo, Perotti Daniela
Abstract excerpt
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...
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