دورية أكاديمية
Loss of PTEN/MMAC1 activity is a rare and late event in the pathogenesis of nephroblastomas.
| العنوان: | Loss of PTEN/MMAC1 activity is a rare and late event in the pathogenesis of nephroblastomas. |
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| المؤلفون: | Grill, Christine, Guelly, Christian, Ebner, Birgit, Leuschner, Ivo, Hauser-Kronberger, Cornelia, Hoefler, Gerald, Guertl, Barbara |
| المصدر: | Human Pathology, 41 (8), 1172-7 (2010-08) |
| بيانات النشر: | Elsevier BV, 2010. |
| سنة النشر: | 2010 |
| مصطلحات موضوعية: | PTEN Phosphohydrolase, PTEN protein, human, Base Sequence, Child, Humans, Kidney Neoplasms/genetics, Kidney Neoplasms/pathology, Loss of Heterozygosity, Molecular Sequence Data, PTEN Phosphohydrolase/genetics, Wilms Tumor/genetics, Wilms Tumor/pathology, Nephroblastoma, Nephrogenic rest, PTEN, Pathology and Forensic Medicine, Human health sciences, Urology & nephrology, Sciences de la santé humaine, Urologie & néphrologie |
| الوصف: | Recent genetic investigations of nephroblastomas point to an activation of the Wnt pathway. Data indicate however that activation might be partly due to cross talk of different signaling pathways including the tumor suppressor gene PTEN (phosphatase and tensin homolog on chromosome 10). Therefore, we examined expression and chromosomal aberrations of PTEN in nephroblastomas of different subtypes and the corresponding nephrogenic rests. Loss of heterozygosity was analyzed by high-resolution melting analysis of 4 different single nucleotide polymorphisms. Results were confirmed by sequence analysis of the polymerase chain reaction products. In addition, an intragenic insertion-deletion polymorphism of the PTEN gene was investigated. Protein expression was assessed by immunohistochemistry. Twenty-two nephroblastomas and their corresponding nephrogenic rests were included in the study. In the high-resolution melting analysis, 15 samples were homozygous, 6 were heterozygous, and for 1 sample results could not be obtained for technical reasons. None of the samples showed loss of heterozygosity. Nineteen of the tumors and corresponding nephrogenic rests were also examined immunohistochemically. All tumors showed cytoplasmic positivity, with the exception of 1 tumor that showed complete loss of staining. In 1 tumor, the epithelial component showed distinct cytoplasmic staining, whereas the immature muscle and hyaline cartilage were negative. All nephrogenic rests exhibited positive cytoplasmic staining of all components. Our results establish that inactivation of PTEN is a rare and late event in the pathogenesis of nephroblastomas. |
| نوع الوثيقة: | journal article http://purl.org/coar/resource_type/c_6501 article |
| اللغة: | English |
| Relation: | https://api.elsevier.com/content/article/PII:S0046817710000328?httpAccept=text/xml; urn:issn:0046-8177; urn:issn:1532-8392 |
| DOI: | 10.1016/j.humpath.2009.10.024 |
| URL الوصول: | https://orbi.uliege.be/handle/2268/291268 |
| حقوق: | open access http://purl.org/coar/access_right/c_abf2 info:eu-repo/semantics/openAccess |
| رقم الأكسشن: | edsorb.291268 |
| قاعدة البيانات: | ORBi |
| DOI: | 10.1016/j.humpath.2009.10.024 |
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