Outcomes of annual surveillance imaging in an adult and paediatric cohort of succinate dehydrogenase B mutation carriers.
OBJECTIVE
For 'asymptomatic carriers' of the succinate dehydrogenase subunit B (SDHB) gene mutations, there is currently no consensus as to the appropriate modality or frequency of surveillance imaging. We present the results of a surveillance programme of SDHB mutation carriers.


METHODS
Review of clinical outcomes of a surveillance regimen in patients identified to have an SDHB gene mutation, based on annual MRI, in a single UK tertiary referral centre.


METHODS
A total of 92 patients were identified with an SDHB gene mutation. a total of 27 index patients presented with symptoms, and 65 patients were identified as asymptomatic carriers.


METHODS
Annual MRI of the abdomen, with alternate year MRI of the neck, thorax and pelvis. Presence of an SDHB-related tumour included paraganglioma (PGL), phaeochromocytoma (PCC), renal cell carcinoma (RCC) and gastrointestinal stromal tumour (GIST).


RESULTS
A total of 43 PGLs, eight PCCs and one RCC occurred in the 27 index patients (23 solitary, four synchronous, five metachronous). A further 15 SDHB-related tumours (11 PGLs, three RCCs, one GIST) were identified in the asymptomatic carriers on surveillance screening (25% of screened carriers): 10 on the first surveillance imaging and five on subsequent imaging 2-6 years later. A total of 11 patients had malignant disease.


CONCLUSIONS
SDHB-related tumours are picked up as early as 2 years after initial negative surveillance scan. We believe the high malignancy rate and early identification rate of tumours justifies the use of 1-2 yearly imaging protocols and MRI-based imaging could form the mainstay of surveillance in this patient group thereby minimizing radiation exposure.
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.|Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Nicola
N
Tufton
Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.|Department of Paediatric Endocrinology, Royal London Hospital, Barts Health NHS Trust, London, UK.
Lucy
L
Shapiro
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.|Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Umasuthan
U
Srirangalingam
Department of Radiology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Polly
P
Richards
Department of Radiology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Anju
A
Sahdev
North East Thames Regional Genetics Service, Great Ormond Street Hospital, London, UK.
Ajith V
AV
Kumar
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Lorraine
L
McAndrew
Department of Paediatric Endocrinology, Royal London Hospital, Barts Health NHS Trust, London, UK.
Lee
L
Martin
Department of Pathology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Daniel
D
Berney
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
John
J
Monson
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Shern L
SL
Chew
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Mona
M
Waterhouse
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.|Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Maralyn
M
Druce
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.|Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Márta
M
Korbonits
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Karl
K
Metcalfe
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
William M
WM
Drake
Centre for Endocrinology, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.|Department of Paediatric Endocrinology, Royal London Hospital, Barts Health NHS Trust, London, UK.
Helen L
HL
Storr
Department of Endocrinology, St Bartholomew's Hospital, Barts Health NHS Trust, London, UK.
Scott A
SA
Akker
D000293:Adolescent; D000328:Adult; D002648:Child; D015331:Cohort Studies; D062665:Epidemiological Monitoring; D005260:Female; D006579:Heterozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009369:Neoplasms / Q000000981:diagnostic imaging / Q000235:genetics / Q000473:pathology; D013385:Succinate Dehydrogenase / Q000235:genetics*; D006113:United Kingdom / Q000453:epidemiology; D055815:Young Adult
C491545:SDHD protein, human; D013385:Succinate Dehydrogenase