Succinate dehydrogenase B associated bladder paragangliomas

U Srirangalingam; A Banerjee; E George; M Druce; M Waterhouse; S L Chew; J Peters; P Patki; A J Kumar; D Berney; A Sahdev; W M Drake; S A Akker

doi:10.1530/endoabs.37.EP1148

EP1148

Prev Next

Section Contents Cite

Endocrine Abstracts (2015) 37 EP1148 | DOI: 10.1530/endoabs.37.EP1148

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

Err

Author affiliations View ePoster Download ePoster

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.