دورية أكاديمية

Activation of beta-catenin is a late event in the pathogenesis of nephroblastomas and rarely correlated with genetic changes of the APC gene.

التفاصيل البيبلوغرافية
العنوان: Activation of beta-catenin is a late event in the pathogenesis of nephroblastomas and rarely correlated with genetic changes of the APC gene.
المؤلفون: Grill, Christine, Sunitsch, Sandra, Hatz, Martina, Hauser-Kronberger, Cornelia, Leuschner, Ivo, Hoefler, Gerald, Guertl, Barbara
المصدر: Pathology, 43 (7), 702-6 (2011-12)
بيانات النشر: Lippincott Williams and Wilkins, 2011.
سنة النشر: 2011
مصطلحات موضوعية: CTNNB1 protein, human, beta Catenin, Humans, Immunohistochemistry, Kidney Neoplasms/genetics, Kidney Neoplasms/metabolism, Kidney Neoplasms/pathology, Mutation, Precancerous Conditions/genetics, Precancerous Conditions/metabolism, Precancerous Conditions/pathology, Reverse Transcriptase Polymerase Chain Reaction, Wilms Tumor/genetics, Wilms Tumor/metabolism, Wilms Tumor/pathology, beta Catenin/metabolism, Genes, APC, APC, LOH, Mutation analysis, Nephroblastoma, Nephrogenic rest, β-catenin, Pathology and Forensic Medicine, Life sciences, Biochemistry, biophysics & molecular biology, Sciences du vivant, Biochimie, biophysique & biologie moléculaire
الوصف: [en] AIMS: Activation of β-catenin has been identified as a possible mechanism for the development of nephroblastomas. In our study we investigated whether this activation occurs already in precursor lesions of nephroblastomas, called nephrogenic rests (NRs). Inactivation of the adenomatous polyposis coli (APC) protein is an important regulatory mechanism of activating β-catenin. We clarified the role of APC by assessing loss of heterozygosity (LOH) and possible mutations within the genomic region.METHODS: Activation of β-catenin was examined by immunohistochemistry identifying nuclear translocation. Two polymorphic loci of the APC gene were investigated for LOH and sequence analysis was performed for the mutation cluster region of the APC gene on formalin fixed, paraffin embedded samples.RESULTS: Four of the 18 nephroblastomas available for immunohistochemistry exhibited nuclear staining of β-catenin, but none of the NRs. Analysis of LOH revealed 14 homozygous samples, 10 heterozygous tumours and six tumours exhibiting LOH of the APC gene. One blastema-type nephroblastoma showed nuclear localisation of β-catenin in conjunction with LOH of the APC gene. Analysis of 12 nephroblastomas revealed no sequence aberration.CONCLUSION: Our results indicate that nuclear activation of β-catenin is a late event in the tumorigenesis of nephroblastomas coinciding in some tumours with LOH of the APC gene.
نوع الوثيقة: journal article
http://purl.org/coar/resource_type/c_6501
article
اللغة: English
Relation: https://api.elsevier.com/content/article/PII:S0031302516329397?httpAccept=text/xml; urn:issn:0031-3025; urn:issn:1465-3931
DOI: 10.1097/PAT.0b013e32834bf65c
URL الوصول: https://orbi.uliege.be/handle/2268/291270
حقوق: open access
http://purl.org/coar/access_right/c_abf2
info:eu-repo/semantics/openAccess
رقم الأكسشن: edsorb.291270
قاعدة البيانات: ORBi