Rhabdoid tumours
Rhabdoid tumors (RT) are rare highly malignant tumors. They are part of the embryonic types of tumors and therefore occur in early childhood (between ages of 0-2 years). The most common locations are brain and kidney, but RTs arising usually from soft tissues have been reported widely at most anatomical sites in the body. These tumors are composed of rhabdoid cells alone or as a mixture with primitive neuroectodermal cells, mesenchymal cells and/or epithelial cells, commonly denoted as atypical teratoid/rhabdoid tumours (AT/RT). Based on extremely rare incidence and usually non-specific histological picture, molecular genetic studies are extremely helpful in confirming diagnosis of RT. Biallelic inactivation mutation of the SMARCB1 gene plays a crucial role in the pathogenesis of most RT. One third of mutations are germline mutations leading to the designation of the so-called rhabdoid predisposition syndrome. Molecular genetic analysis of the SMARCB1 gene might be beneficial in the establishment of correct diagnosis, genetic counselling and for epidemiologic studies.
| Medienart: |
Artikel |
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| Erscheinungsjahr: |
2012 |
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| Erschienen: |
2012 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:25 Suppl |
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| Enthalten in: |
Klinicka onkologie : casopis Ceske a Slovenske onkologicke spolecnosti - 25 Suppl(2012) vom: 26., Seite S27-9 |
| Sprache: |
Slowakisch |
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| Weiterer Titel: |
Rhabdoidné nádory |
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| Beteiligte Personen: |
Vasovčák, P [VerfasserIn] |
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| Themen: |
Chromosomal Proteins, Non-Histone |
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| Anmerkungen: |
Date Completed 16.10.2012 Date Revised 25.11.2016 published: Print Citation Status MEDLINE |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM22048158X |
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| 245 | 1 | 0 | |a Rhabdoid tumours |
| 246 | 3 | 3 | |a Rhabdoidné nádory |
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| 500 | |a Date Completed 16.10.2012 | ||
| 500 | |a Date Revised 25.11.2016 | ||
| 500 | |a published: Print | ||
| 500 | |a Citation Status MEDLINE | ||
| 520 | |a Rhabdoid tumors (RT) are rare highly malignant tumors. They are part of the embryonic types of tumors and therefore occur in early childhood (between ages of 0-2 years). The most common locations are brain and kidney, but RTs arising usually from soft tissues have been reported widely at most anatomical sites in the body. These tumors are composed of rhabdoid cells alone or as a mixture with primitive neuroectodermal cells, mesenchymal cells and/or epithelial cells, commonly denoted as atypical teratoid/rhabdoid tumours (AT/RT). Based on extremely rare incidence and usually non-specific histological picture, molecular genetic studies are extremely helpful in confirming diagnosis of RT. Biallelic inactivation mutation of the SMARCB1 gene plays a crucial role in the pathogenesis of most RT. One third of mutations are germline mutations leading to the designation of the so-called rhabdoid predisposition syndrome. Molecular genetic analysis of the SMARCB1 gene might be beneficial in the establishment of correct diagnosis, genetic counselling and for epidemiologic studies | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a Research Support, Non-U.S. Gov't | |
| 650 | 7 | |a Chromosomal Proteins, Non-Histone |2 NLM | |
| 650 | 7 | |a DNA-Binding Proteins |2 NLM | |
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| 650 | 7 | |a SMARCB1 protein, human |2 NLM | |
| 650 | 7 | |a Transcription Factors |2 NLM | |
| 700 | 1 | |a Puchmajerová, A |e verfasserin |4 aut | |
| 700 | 1 | |a Křepelová, A |e verfasserin |4 aut | |
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