Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation

We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal‐type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and...

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Main Authors: Uschkereit, Constanze, Perez, Noelia, de Torres, Carmen, Küff, Maike, Mora, Jaume, Royer‐Pokora, Brigitte
Formato: Artigo
Idioma:English
Publicado em: BMJ Group 2007
Assuntos:
Letter to JMG
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2740887/
https://ncbi.nlm.nih.gov/pubmed/17551084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047530
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spelling pubmed-27408872010-06-01 Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation Uschkereit, Constanze Perez, Noelia de Torres, Carmen Küff, Maike Mora, Jaume Royer‐Pokora, Brigitte J Med Genet Letter to JMG We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal‐type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and Δ45S in the right tumour. Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide. Microdissection of two areas of muscle cells from the right tumour revealed the same Δ45S mutation and no CTNNB1 mutation nor LOH of WT1 in normal kidney cells. One year later, the patient developed a new set of bilateral tumours. Both tumours showed LOH of the wild type WT1 allele, but different CTNNB1 mutations as in the first tumours: S45C on the right and S45F on the left side, demonstrating that these developed independently and are not relapses. This case demonstrates the high risk for the development of Wilms tumours in patients with germ line truncation mutations. BMJ Group 2007-06 /pmc/articles/PMC2740887/ /pubmed/17551084 http://dx.doi.org/10.1136/jmg.2006.047530 Text en Copyright © 2007 BMJ Publishing Group Ltd
institution US National Library of Medicine
collection PubMed Central
language English
format Article
topic Letter to JMG
spellingShingle Letter to JMG
Uschkereit, Constanze
Perez, Noelia
de Torres, Carmen
Küff, Maike
Mora, Jaume
Royer‐Pokora, Brigitte
Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
description We describe a patient with a novel WT1 pS50X germ line mutation, who developed bilateral Wilms tumours, both with stromal‐type histology. Both tumours showed loss of the wild type WT1 allele (loss of heterozygosity (LOH)) and a tumour specific mutation in catenin beta1 (CTNNB1), S45P in the left and Δ45S in the right tumour. Molecular analysis of microdissected cells from the left tumour revealed the same S45P CTNNB1 mutation in blastema, tubuli, stroma and muscle, and a different CTNNB1 mutation (T41A) in stromal cells isolated from another area of the same slide. Microdissection of two areas of muscle cells from the right tumour revealed the same Δ45S mutation and no CTNNB1 mutation nor LOH of WT1 in normal kidney cells. One year later, the patient developed a new set of bilateral tumours. Both tumours showed LOH of the wild type WT1 allele, but different CTNNB1 mutations as in the first tumours: S45C on the right and S45F on the left side, demonstrating that these developed independently and are not relapses. This case demonstrates the high risk for the development of Wilms tumours in patients with germ line truncation mutations.
author Uschkereit, Constanze
Perez, Noelia
de Torres, Carmen
Küff, Maike
Mora, Jaume
Royer‐Pokora, Brigitte
author_facet Uschkereit, Constanze
Perez, Noelia
de Torres, Carmen
Küff, Maike
Mora, Jaume
Royer‐Pokora, Brigitte
author_sort Uschkereit, Constanze
title Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
title_short Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
title_full Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
title_fullStr Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
title_full_unstemmed Different CTNNB1 mutations as molecular genetic proof for the independent origin of four Wilms tumours in a patient with a novel germ line WT1 mutation
title_sort different ctnnb1 mutations as molecular genetic proof for the independent origin of four wilms tumours in a patient with a novel germ line wt1 mutation
publisher BMJ Group
publisher_facet BMJ Group
publishDate 2007
url https://ncbi.nlm.nih.gov/pmc/articles/PMC2740887/
https://ncbi.nlm.nih.gov/pubmed/17551084
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmg.2006.047530
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