SDHB系统
医学
副神经节瘤
嗜铬细胞瘤
心悸
泌尿系统
膀胱
种系突变
病理
内科学
突变
泌尿科
基因
遗传学
生物
作者
Bayan Hafiz,Omar Buksh,Adel Al-Ammari,Ahmed Khogeer,Samirah Alturkistani,Wafaey Gomaa,Jaudah Al‐Maghrabi
出处
期刊:Cureus
[Cureus, Inc.]
日期:2021-08-21
被引量:1
摘要
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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