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

J 2021

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

PAPEŽ, Jan, Jiří ŠTARHA, Pavel ZERHAU, Denisa PAVLOVSKÁ, Marta JEŽOVÁ et. al.

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

Language

English

Type of outcome

Článek v odborném periodiku

Field of Study

10603 Genetics and heredity

Country of publisher

Switzerland

Confidentiality degree

není předmětem státního či obchodního tajemství

References:

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

Abstract

V originále

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 MU

Name: 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 project

Name: 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

Citovat

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.

@article{1743544,
   author = {Papež, Jan and Štarha, Jiří and Zerhau, Pavel and Pavlovská, Denisa and Ježová, Marta and Juřenčák, Tomáš and Slabá, Kateřina and Štěrba, Martin and Kerekes, Arpád and Merta, Tomáš and Halušková, Terézia and Pálová, Hana and Slabý, Ondřej and Štěrba, Jaroslav and Jabandžiev, Petr},
   article_location = {Basel},
   article_number = {2},
   doi = {http://dx.doi.org/10.3390/genes12020220},
   keywords = {juxtaglomerular cell tumor; reninoma; spindle cell hemangioendothelioma; kidney; hypertension; children},
   language = {eng},
   issn = {2073-4425},
   journal = {Genes},
   title = {Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report},
   url = {https://www.mdpi.com/2073-4425/12/2/220},
   volume = {12},
   year = {2021}
}

TY  - JOUR
ID  - 1743544
AU  - Papež, Jan - Štarha, Jiří - Zerhau, Pavel - Pavlovská, Denisa - Ježová, Marta - Juřenčák, Tomáš - Slabá, Kateřina - Štěrba, Martin - Kerekes, Arpád - Merta, Tomáš - Halušková, Terézia - Pálová, Hana - Slabý, Ondřej - Štěrba, Jaroslav - Jabandžiev, Petr
PY  - 2021
TI  - Spindle Cell Hemangioma and Atypically Localized Juxtaglomerular Cell Tumor in a Patient with Hereditary BRIP1 Mutation: A Case Report
JF  - Genes
VL  - 12
IS  - 2
SP  - 1-8
EP  - 1-8
PB  - MDPI
SN  - 20734425
KW  - juxtaglomerular cell tumor
KW  - reninoma
KW  - spindle cell hemangioendothelioma
KW  - kidney
KW  - hypertension
KW  - children
UR  - https://www.mdpi.com/2073-4425/12/2/220
L2  - https://www.mdpi.com/2073-4425/12/2/220
N2  - 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.
ER  -

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. \textit{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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