ECE2015 Eposter Presentations Endocrine tumours (69 abstracts)
Succinate dehydrogenase B associated bladder paragangliomas
U Srirangalingam 2 , A Banerjee 1 , E George 3 , M Druce 1 , M Waterhouse 1 , S L Chew 1 , J Peters 1 , P Patki 1 , A J Kumar 1 , D Berney 1 , A Sahdev 1 , W M Drake 1 & S A Akker 1
1St Bartholomew’s Hospital, London, UK; 2Royal Free Hospital, London, UK; 3Queen Elizabeth Hospital, King’s Lynn, UK.
Objective: Succinate dehydrogenase B (SDHB) germline mutations are associated with predominantly extra-adrenal paraganglioma (PGLs) and high rates of metastatic disease. Bladder paragangliomas are a rare form of chromaffin cell tumours arising from the bladder wall. The aim of the study is to highlight the preponderance of bladder paragangliomas associated with SDHB gene mutations.
Design: Retrospective case series.
Patients: Five of eight subjects (62.5%) subjects with bladder paragangliomas found to have SDHB mutations. Subjects were seen at St Bartholomew’s and associated hospitals, between 1989 and 2013.
Measurements: Basic demographics, disease characteristics, genetics, clinical outcomes.
Results: Genetic testing confirmed germline SDHB mutations. Median age at first diagnosis was 24 years (range 18–68). 60% of patients presented with micturition related symptoms of catecholamine excess. Plasma and/or 24-h urine catecholamines/metanephrines were raised in 4/5 (80%) subjects. A positive family history was apparent in 2/5 (40%). Surgical resection was undertaken in four subjects and one subject awaits surgery. Histopathological or radiological analysis confirmed extension through the lamina propria in 4/5 (80%) subjects. Distant metastatic disease developed in 2/5 (40%) subjects within 4 years of the initial tumour diagnosis. A non-invasive 5.4 mm bladder paraganglioma was identified and excised at an early stage through the SDHB surveillance program. One subject died from metastatic disease 6 years after the initial diagnosis.
Conclusions: The bladder is a ‘hot-spot’ for SDHB associated paragangliomas linked with high rates of invasive disease. Intensive surveillance regimes, with a focus on the bladder can allow early identification and treatment of potentially aggressive disease.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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