Idioma:

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors

Hasselblatt, Martin ; Isken, Sarah ; Linge, Anna ; Eikmeier, Kristin ; Jeibmann, Astrid ; Oyen, Florian ; Nagel, Inga ; Richter, Julia ; Bartelheim, Kerstin ; Kordes, Uwe ; Schneppenheim, Reinhard ; Frühwald, Michael ; Siebert, Reiner ; Paulus, Werner

Genes chromosomes & cancer, 2013-02, Vol.52 (2), p.185-190 [Periódico revisado por pares]

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Texto completo disponível

Citações Citado por

Enviar para

Título:
High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors
Autor: Hasselblatt, Martin ; Isken, Sarah ; Linge, Anna ; Eikmeier, Kristin ; Jeibmann, Astrid ; Oyen, Florian ; Nagel, Inga ; Richter, Julia ; Bartelheim, Kerstin ; Kordes, Uwe ; Schneppenheim, Reinhard ; Frühwald, Michael ; Siebert, Reiner ; Paulus, Werner
Assuntos: 2-Methylisoborneol ; Child, Preschool ; Chromosomal Proteins, Non-Histone - genetics ; Chromosome Aberrations ; Chromosomes, Human, Pair 22 - genetics ; DNA Copy Number Variations ; DNA Mutational Analysis ; DNA-Binding Proteins - genetics ; Female ; Gene Deletion ; Genome-Wide Association Study ; Genotype ; Humans ; In Situ Hybridization, Fluorescence ; Infant ; Infant, Newborn ; Loss of Heterozygosity ; Male ; Multiplex Polymerase Chain Reaction ; Mutation ; Polymorphism, Single Nucleotide ; Rhabdoid Tumor - genetics ; SMARCB1 Protein ; Transcription Factors - genetics
É parte de: Genes chromosomes & cancer, 2013-02, Vol.52 (2), p.185-190
Notas: istex:63777B974617CC46B41EAC02A4C535F8D51FAA04
KinderKrebsInitiative Buchholz/Holm-Seppensen
ark:/67375/WNG-W6H3BFMR-H
ArticleID:GCC22018
IZKF Münster (HA3/016/11)
Fördergemeinschaft Kinderkrebszentrum Hamburg e.V.
ObjectType-Article-2
SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 23
Descrição: Atypical teratoid/rhabdoid tumor (AT/RT) is a rare malignant pediatric brain tumor characterized by genetic alterations affecting the SMARCB1 (hSNF5/INI1) locus in chromosome band 22q11.2. To identify potential additional genetic alterations, high‐resolution genome‐wide analysis was performed using a molecular inversion probe single‐nucleotide polymorphism (MIP SNP) assay (Affymetrix OncoScan formalin‐fixed paraffin‐embedded express) on DNA isolated from 18 formalin‐fixed paraffin‐embedded archival samples. Alterations affecting the SMARCB1 locus could be demonstrated by MIP SNP in 15 out of 16 evaluable cases (94%). These comprised five tumors with homozygous deletions, six tumors with heterozygous deletions, and four tumors with copy number neutral loss of heterozygosity (LOH) involving chromosome band 22q11.2. Remarkably, MIB SNP analysis did not yield any further recurrent chromosomal gains, losses, or copy neutral LOH. On MIP SNP screening for somatic mutations, the presence of a SMARCB1 mutation (c.472C>T p.R158X) was confirmed, but no recurrent mutations of other cancer relevant genes could be identified. Results of fluorescence in situ hybridization, multiplex ligation‐dependent probe amplification, and SMARCB1 sequencing were highly congruent with that of the MIP SNP assay. In conclusion, these data further suggest the absence of recurrent genomic alterations other than SMARCB1 in AT/RT. © 2012 Wiley Periodicals, Inc.
Editor: Hoboken: Wiley Subscription Services, Inc., A Wiley Company
Idioma: Inglês

Links

View this record in MEDLINE/PubMed

Voltar para lista de resultados

Realização: Logos de Redes Sociais:

High-resolution genomic analysis suggests the absence of recurrent genomic alterations other than SMARCB1 aberrations in atypical teratoid/rhabdoid tumors

Hasselblatt, Martin ; Isken, Sarah ; Linge, Anna ; Eikmeier, Kristin ; Jeibmann, Astrid ; Oyen, Florian ; Nagel, Inga ; Richter, Julia ; Bartelheim, Kerstin ; Kordes, Uwe ; Schneppenheim, Reinhard ; Frühwald, Michael ; Siebert, Reiner ; Paulus, Werner

Hoboken: Wiley Subscription Services, Inc., A Wiley Company

Buscando em bases de dados remotas. Favor aguardar.