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Volume 12
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10.3390/genes12020220
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Case Report

Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report

by
Jan Papez
1,2,
Jiri Starha
1,2,
Pavel Zerhau
2,3,
Denisa Pavlovska
2,4,
Marta Jezova
2,5,
Tomas Jurencak
1,2,
Katerina Slaba
1,2,
Martin Sterba
1,2,
Arpad Kerekes
2,6,
Tomas Merta
2,6,
Terezia Haluskova
2,6,
Hana Palova
7,
Ondrej Slaby
7,8,
Jaroslav Sterba
2,6 and
Petr Jabandziev
1,2,7,*
1
Department of Pediatrics, University Hospital Brno, 613 00 Brno, Czech Republic
2
Faculty of Medicine, Masaryk University, Brno, 625 00 Brno, Czech Republic
3
Department of Pediatric Surgery, Orthopedics and Traumatology, University Hospital Brno, 613 00 Brno, Czech Republic
4
Department of Pediatric Radiology, University Hospital Brno, 613 00 Brno, Czech Republic
5
Department of Pathology, University Hospital Brno, 613 00 Brno, Czech Republic
6
Department of Pediatric Oncology, University Hospital Brno, 613 00 Brno, Czech Republic
7
Central European Institute of Technology, 625 00 Brno, Czech Republic
8
Department of Biology, Faculty of Medicine, Masaryk University, 602 00 Brno, Czech Republic
*
Author to whom correspondence should be addressed.
Genes 2021, 12(2), 220; https://doi.org/10.3390/genes12020220
Submission received: 6 December 2020 / Revised: 28 January 2021 / Accepted: 29 January 2021 / Published: 3 February 2021
(This article belongs to the Section Human Genomics and Genetic Diseases)
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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.
Keywords: juxtaglomerular cell tumor; reninoma; spindle cell hemangioendothelioma; kidney; hypertension; children juxtaglomerular cell tumor; reninoma; spindle cell hemangioendothelioma; kidney; hypertension; children

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MDPI and ACS Style

Papez, J.; Starha, J.; Zerhau, P.; Pavlovska, D.; Jezova, M.; Jurencak, T.; Slaba, K.; Sterba, M.; Kerekes, A.; Merta, T.; et al. Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Genes 2021, 12, 220. https://doi.org/10.3390/genes12020220

AMA Style

Papez J, Starha J, Zerhau P, Pavlovska D, Jezova M, Jurencak T, Slaba K, Sterba M, Kerekes A, Merta T, et al. Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Genes. 2021; 12(2):220. https://doi.org/10.3390/genes12020220

Chicago/Turabian Style

Papez, Jan, Jiri Starha, Pavel Zerhau, Denisa Pavlovska, Marta Jezova, Tomas Jurencak, Katerina Slaba, Martin Sterba, Arpad Kerekes, Tomas Merta, and et al. 2021. "Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report" Genes 12, no. 2: 220. https://doi.org/10.3390/genes12020220

APA Style

Papez, J., Starha, J., Zerhau, P., Pavlovska, D., Jezova, M., Jurencak, T., Slaba, K., Sterba, M., Kerekes, A., Merta, T., Haluskova, T., Palova, H., Slaby, O., Sterba, J., & Jabandziev, P. (2021). Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report. Genes, 12(2), 220. https://doi.org/10.3390/genes12020220

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