ISSN 1470-3947 (print) | ISSN 1479-6848 (online)

Endocrine Abstracts (2017) 50 CC05 | DOI: 10.1530/endoabs.50.CC05

Mutational analysis and SDHB immunostaining in bladder paraganglioma

Shaina Rafique1, Aarthi Surendran1, Mamta Joshi1, Louise Breen1, Anand Velusamy1, Louise Izatt2, Barbara McGowan1, Jake Powrie1 & Paul V Carroll1

1Department of Endocrinology, Guys and St Thomas Hospital, London, United Kingdom; 2Department of Genetics, Guys and St Thomas Hospital, London, United Kingdom.

Bladder Paragangliomas (PGLs) constitute < 1% of all bladder tumours and 5% in our patient cohort of 80 patients with tumours due to SDH deficiency. They often display an aggressive phenotype with metastatic disease and require long-term follow up. SDHB immunostaining plays a significant role in initial risk stratification and facilitating appropriate genetic testing. We present four cases of bladder PGLs; two with SDHB mutation, one SDHA and one is awaiting extended genetic analysis in view of young age (33 years). Our patients ranged from 29 to 67 years of age (median 42 years), 2M and 2F with predominant presentation being haematuria. Headache and sympathetic symptoms during micturition were also present in two patients. Plasma normetadrenaline was elevated in three patients and urine dopamine was also elevated in one who tested positive for SDHB mutation and subsequently developed metastatic disease. Initial biochemistry was not available in one patient as he underwent tumour resection in another centre several years ago. The tumours in all four patients displayed MIBG avidity although they are reported to have preference for FDG-PET and Gallium Dotatate. SDHB immunostaining is currently available in one patient only (67 year old lady) who tested negative in our initial routine genetic panel. However, she underwent screening for SDHA as the tumour sample repeatedly stained negative on SDHB immunohistochemistry indicating a likely mutation. SDHA frameshift variant Exon 2 c.133_136delinsCCT was detected which has not been previously reported in bladder PGLs. We conclude that SDHB immunostaining still remains an indispensable tool especially for the evaluation of bladder paraganglioma. As new causative genes become validated repeat testing should be performed in patients with a previously negative genetic panels and SDHA should be routinely included in the evaluation of the patient with a bladder PGL.

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