SFEBES2009 Oral Communications Thyroid, reproduction and endocrine tumours (8 abstracts)
Contrasting clinical manifestations of SDH-B and VHL associated chromaffin tumours
U Srirangalingam 1 , B Khoo 1 , L Walker 2 , F MacDonald 3 , RH Skelly 4 , E George 5 , D Spooner 6 , L Johnston 1 , JP Monson 1 , AB Grossman 1 , SA Akker 1 , WM Drake 1 , PJ Pollard 7 , N Plowman 1 , N Avril 1 , DM Berney 1 , JM Burrin 1 , RH Reznek 1 , VKA Kumar 1 , ER Maher 3 & SL Chew 1
1St Bartholomew’s Hospital, London, UK; 2The Churchill Hospital, Oxford, UK; 3University of Birmingham School of Medicine, Birmingham, UK; 4Colchester General Hospital, Colchester, UK; 5Queen Elizabeth Hospital, King’s Lynn, UK; 6Queen Elizabeth Medical Centre, Birmingham, UK; 7University of Oxford, Oxford, UK.
Background: Mutations in succinate dehydrogense-B (SDH-B) or von Hippel Lindau (VHL) genes can result in chromaffin tumours.
Objective: To compare the clinical phenotypes of subjects developing chromaffin tumours as a result of SDH-B or VHL mutations.
Subjects: Thirty-one subjects with chromaffin tumours. Sixteen subjects had SDH-B gene mutations and 15 subjects had a diagnosis of VHL.
Method: Retrospective data collection.
Results: VHL related tumours were predominantly adrenal phaeochromocytomas (22/26; 84.6%) while SDH-B related tumours were predominantly extra-adrenal paragangliomas (19/25; 76%). Median age at onset of the first chromaffin tumour was similar in the two cohorts. Tumour size was significantly larger in the SDH-B cohort in comparison to the VHL cohort (P=0.002). Multifocal disease was present in 9/15 (60%) of the VHL cohort (bilateral phaeochromocytomas) and only 3/16 (19%) of the SDH-B cohort, while metastatic disease was found in 5/16 (31%) of the SDH-B cohort but not in the VHL cohort to date. The frequency of symptoms, hypertension and the magnitude of catecholamine secretion appeared greater in the SDH-B cohort. Renal cell carcinomas were a feature in 5/15 (33%) of the VHL cohort and 1/16 (6%) of the SDH-B cohort.
Conclusions: SDH-B related tumours are predominantly extra-adrenal in location, associated with higher catecholamine secretions and more malignant disease in subjects who appear more symptomatic. VHL related tumours tend to be adrenal phaeochromocytomas, frequently bilateral and associated with a milder phenotype. Differences in disease presentations may be due, in part, to differences in the establishment of accepted surveillance regimes for the two syndromes and partly due to the inherent aggressive nature of disease in SDH-B versus VHL related disease.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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