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Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report
J. Papez, J. Starha, P. Zerhau, D. Pavlovska, M. Jezova, T. Jurencak, K. Slaba, M. Sterba, A. Kerekes, T. Merta, T. Haluskova, H. Palova, O. Slaby, J. Sterba, P. Jabandziev
Jazyk angličtina Země Švýcarsko
Typ dokumentu kazuistiky, práce podpořená grantem
Free Medical Journals od 2010
PubMed Central od 2010
Europe PubMed Central od 2010
ProQuest Central od 2010-03-01
Open Access Digital Library od 2010-01-01
Open Access Digital Library od 2010-01-01
ROAD: Directory of Open Access Scholarly Resources od 2010
Odkazy
PubMed
33546375
DOI
10.3390/genes12020220
Knihovny.cz E-zdroje
- MeSH
- genetická predispozice k nemoci * MeSH
- hemangiom diagnóza genetika patologie MeSH
- juxtaglomerulární aparát patologie MeSH
- ledviny metabolismus patologie MeSH
- lidé MeSH
- proteiny FANC genetika MeSH
- RNA-helikasy genetika MeSH
- zárodečné mutace genetika MeSH
- Check Tag
- lidé MeSH
- Publikační typ
- kazuistiky MeSH
- práce podpořená grantem MeSH
Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.
Central European Institute of Technology 625 00 Brno Czech Republic
Department of Biology Faculty of Medicine Masaryk University 602 00 Brno Czech Republic
Department of Pathology University Hospital Brno 613 00 Brno Czech Republic
Department of Pediatric Oncology University Hospital Brno 613 00 Brno Czech Republic
Department of Pediatric Radiology University Hospital Brno 613 00 Brno Czech Republic
Department of Pediatrics University Hospital Brno 613 00 Brno Czech Republic
Faculty of Medicine Masaryk University Brno 625 00 Brno Czech Republic
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- $a Spindle cell hemangioma is a benign vascular tumor typically occurring in the dermis or subcutis of distal extremities as red-brown lesions that can grow in both size and number over time. They can be very painful and potentially disabling. A family history of cancer or previous history may be relevant and must be taken into consideration. Juxtaglomerular cell tumor (reninoma) is an extremely rare cause of secondary hypertension diagnosed mostly among adolescents and young adults. Excessive renin secretion results in secondary hyperaldosteronism. Subsequent hypokalemia and metabolic alkalosis, together with high blood pressure, are clues for clinical diagnosis. Histological examination of the excised tumor leads to a definitive diagnosis. Reninoma is found in subcapsular localization, in most cases as a solitary mass, in imaging studies of kidneys. Exceptionally, it can be located in another part of a kidney. Both spindle cell hemangioma and reninoma are extremely rare tumors in children and adolescents. Herein, the authors present a case report of a patient with hereditary BRCA1 interacting protein C-terminal helicase 1 (BRIP1) mutation, spindle cell hemangioma, and secondary hypertension caused by atypically localized reninoma.
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