Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Brigitte Royer-Pokora
PROVIDER: E-GEOD-71265 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Brandt Artur A Löhers Katharina K Beier Manfred M Leube Barbara B de Torres Carmen C Mora Jaume J Arora Parineeta P Jat Parmjit S PS Royer-Pokora Brigitte B
PloS one 20160523 5
We describe a stromal predominant Wilms tumor with focal anaplasia and a complex, tumor specific chromosome 11 aberration: a homozygous deletion of the entire WT1 gene within a heterozygous 11p13 deletion and an additional region of uniparental disomy (UPD) limited to 11p15.5-p15.2 including the IGF2 gene. The tumor carried a heterozygous p.T41A mutation in CTNNB1. Cells established from the tumor carried the same chromosome 11 aberration, but a different, homozygous p.S45Δ CTNNB1 mutation. Unip ...[more]