PAPEŽ, Jan, Jiří ŠTARHA, Pavel ZERHAU, Denisa PAVLOVSKÁ, Marta JEŽOVÁ, Tomáš JUŘENČÁK, Kateřina SLABÁ, Martin ŠTĚRBA, Arpád KEREKES, Tomáš MERTA, Terézia HALUŠKOVÁ, Hana PÁLOVÁ, Ondřej SLABÝ, Jaroslav ŠTĚRBA and Petr JABANDŽIEV. Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Genes. Basel: MDPI, 2021, vol. 12, No 2, p. 1-8. ISSN 2073-4425. Available from: https://dx.doi.org/10.3390/genes12020220.
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Basic information
Original name Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report
Authors PAPEŽ, Jan (203 Czech Republic, belonging to the institution), Jiří ŠTARHA (203 Czech Republic, belonging to the institution), Pavel ZERHAU (203 Czech Republic, belonging to the institution), Denisa PAVLOVSKÁ (203 Czech Republic, belonging to the institution), Marta JEŽOVÁ (203 Czech Republic, belonging to the institution), Tomáš JUŘENČÁK (203 Czech Republic, belonging to the institution), Kateřina SLABÁ (203 Czech Republic, belonging to the institution), Martin ŠTĚRBA (203 Czech Republic, belonging to the institution), Arpád KEREKES (703 Slovakia, belonging to the institution), Tomáš MERTA (203 Czech Republic, belonging to the institution), Terézia HALUŠKOVÁ (703 Slovakia, belonging to the institution), Hana PÁLOVÁ (203 Czech Republic, belonging to the institution), Ondřej SLABÝ (203 Czech Republic, belonging to the institution), Jaroslav ŠTĚRBA (203 Czech Republic, belonging to the institution) and Petr JABANDŽIEV (203 Czech Republic, guarantor, belonging to the institution).
Edition Genes, Basel, MDPI, 2021, 2073-4425.
Other information
Original language English
Type of outcome Article in a journal
Field of Study 10603 Genetics and heredity
Country of publisher Switzerland
Confidentiality degree is not subject to a state or trade secret
WWW URL
Impact factor Impact factor: 4.141
RIV identification code RIV/00216224:14110/21:00120086
Organization unit Faculty of Medicine
Doi http://dx.doi.org/10.3390/genes12020220
UT WoS 000622590500001
Keywords in English juxtaglomerular cell tumor; reninoma; spindle cell hemangioendothelioma; kidney; hypertension; children
Tags 14110312, 14110313, 14110317, 14110321, 14110513, podil, rivok
Tags International impact, Reviewed
Changed by Changed by: Mgr. Tereza Miškechová, učo 341652. Changed: 21/2/2022 09:18.
Abstract
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.
Links
MUNI/A/1701/2020, interní kód MUName: Personalizovaná léčba v dětské onkologii: na cestě k „liquid dynamic medicine“ a „N-of-1 clinical trials“
Investor: Masaryk University
NU20-03-00240, research and development projectName: Celoexomové sekvenování, sekvenování genomu s nízkým pokrytím a transkriptomu pro účely precizní onkologie u dětských pacientů s vysoce rizikovými a relabovanými solidními nádory
Investor: Ministry of Health of the CR, Whole exome, low-coverage genome and transcriptome sequencing as tools for precision oncology in paediatric patients with high-risk and relapsed solid tumors, Subprogram 1 - standard
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