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Clinical and molecular description of a Wilms tumor in a patient with tuberous sclerosis complex
Author(s) -
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
Publication year - 2011
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.34001
Subject(s) - tuberous sclerosis , tsc2 , loss of heterozygosity , wilms' tumor , anaplasia , tsc1 , pathology , mutation , germline , tumor suppressor gene , allele , germline mutation , biology , gene , medicine , cancer research , genetics , carcinogenesis , apoptosis , pi3k/akt/mtor pathway
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. © 2011 Wiley‐Liss, Inc.