Cargando…
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...
Autores principales: | , , , , , , |
---|---|
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 |
_version_ | 1784569864816427008 |
---|---|
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. |
format | Online Article Text |
id | pubmed-8451535 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | Cureus |
record_format | MEDLINE/PubMed |
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 |
work_keys_str_mv | AT hafizbayan concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT bukshomar concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT alammariadel concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT khogeerahmed concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT alturkistanisamirah concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT gomaawafaey concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation AT almaghrabijaudah concurrenturinarybladderparagangliomaandadrenalphaeochromocytomawithsuccinatedehydrogenasebmutation |