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Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation

Phaeochromocytoma (PHEO) is a neoplasm that arises from chromaffin cells present in the adrenal medulla. The counterpart of the PHEO extra-adrenal is termed paraganglioma (PGL). The urinary bladder PGL is a rare tumour, and it accounts for less than 0.06% of all bladder tumours. In this report, we d...

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Autores principales: Hafiz, Bayan, Buksh, Omar, Alammari, Adel, Khogeer, Ahmed, Alturkistani, Samirah, Gomaa, Wafaey, Al-Maghrabi, Jaudah
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451535/
https://www.ncbi.nlm.nih.gov/pubmed/34567891
http://dx.doi.org/10.7759/cureus.17350
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author Hafiz, Bayan
Buksh, Omar
Alammari, Adel
Khogeer, Ahmed
Alturkistani, Samirah
Gomaa, Wafaey
Al-Maghrabi, Jaudah
author_facet Hafiz, Bayan
Buksh, Omar
Alammari, Adel
Khogeer, Ahmed
Alturkistani, Samirah
Gomaa, Wafaey
Al-Maghrabi, Jaudah
author_sort Hafiz, Bayan
collection PubMed
description Phaeochromocytoma (PHEO) is a neoplasm that arises from chromaffin cells present in the adrenal medulla. The counterpart of the PHEO extra-adrenal is termed paraganglioma (PGL). The urinary bladder PGL is a rare tumour, and it accounts for less than 0.06% of all bladder tumours. In this report, we discuss a case of a young female who presented with symptoms of headache, dizziness, palpitations, and high blood pressure. After workup, she was diagnosed with concurrent urinary bladder PGL and adrenal PHEO, and the genetic study of the whole exon sequence indicated the presence of succinate dehydrogenase-B (SDHB) mutation. Both tumours were treated surgically; however, the patient ultimately developed recurrence, rapid progression, and metastasis. All secondary modalities were unsuccessful, and the patient was referred for palliative treatment and eventually lost to follow-up. PGL should be included in the differential diagnosis of bladder tumours, and testing for SDHB gene mutations should be considered in all urinary PGLs. Therefore, these patients need follow-up and genetic counselling.
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spelling pubmed-84515352021-09-23 Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation Hafiz, Bayan Buksh, Omar Alammari, Adel Khogeer, Ahmed Alturkistani, Samirah Gomaa, Wafaey Al-Maghrabi, Jaudah Cureus Pathology Phaeochromocytoma (PHEO) is a neoplasm that arises from chromaffin cells present in the adrenal medulla. The counterpart of the PHEO extra-adrenal is termed paraganglioma (PGL). The urinary bladder PGL is a rare tumour, and it accounts for less than 0.06% of all bladder tumours. In this report, we discuss a case of a young female who presented with symptoms of headache, dizziness, palpitations, and high blood pressure. After workup, she was diagnosed with concurrent urinary bladder PGL and adrenal PHEO, and the genetic study of the whole exon sequence indicated the presence of succinate dehydrogenase-B (SDHB) mutation. Both tumours were treated surgically; however, the patient ultimately developed recurrence, rapid progression, and metastasis. All secondary modalities were unsuccessful, and the patient was referred for palliative treatment and eventually lost to follow-up. PGL should be included in the differential diagnosis of bladder tumours, and testing for SDHB gene mutations should be considered in all urinary PGLs. Therefore, these patients need follow-up and genetic counselling. Cureus 2021-08-21 /pmc/articles/PMC8451535/ /pubmed/34567891 http://dx.doi.org/10.7759/cureus.17350 Text en Copyright © 2021, Hafiz et al. https://creativecommons.org/licenses/by/3.0/This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
spellingShingle Pathology
Hafiz, Bayan
Buksh, Omar
Alammari, Adel
Khogeer, Ahmed
Alturkistani, Samirah
Gomaa, Wafaey
Al-Maghrabi, Jaudah
Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title_full Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title_fullStr Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title_full_unstemmed Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title_short Concurrent Urinary Bladder Paraganglioma and Adrenal Phaeochromocytoma With Succinate Dehydrogenase-B Mutation
title_sort concurrent urinary bladder paraganglioma and adrenal phaeochromocytoma with succinate dehydrogenase-b mutation
topic Pathology
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8451535/
https://www.ncbi.nlm.nih.gov/pubmed/34567891
http://dx.doi.org/10.7759/cureus.17350
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