SFEBES2015 Poster Presentations Pituitary (48 abstracts)
The burden of AIP mutations in pituitary adenoma patients from the UK
F Caimari 1 , M N Dang 1 , P Gabrovska 1 , L C Hernández-Ramírez 1 , K Stals 2 , A M Bussell 2 , T Cranston 3 , N Karavitaki 4 , A V Kumar 5 , S Hunter 6 , T Kearney 7 , P J Trainer 8 , I Izatt 9 , J Bevan 10 , R Quinton 11 , J Grieve 12 , S E Baldeweg 13 , A B Grossman 4 , P Morrison 14 & M Korbonits 1
1Barts and The London School of Medicine, London, UK; 2Royal Devon & Exeter NHS Foundation Trust, Exeter, UK; 3Oxford University Hospitals NHS Trust, Oxford, UK; 4Churchill Hospital, Oxford, UK; 5Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK; 6Royal Victoria Hospital, Belfast, UK; 7Salford Royal NHS Foundation Trust, Salford, UK; 8The Christie NHS Foundation Trust, Manchester, UK; 9Guy’s Hospital, London, UK; 10Aberdeen Royal Infirmary, Aberdeen, UK; 11Royal Victoria Infirmary, Newcastle, UK; 12National Hospital for Neurology and Neurosurgery, London, UK; 13University College London Hospital, London, UK; 14Belfast City Hospital, Belfast, UK.
Introduction: Familial isolated pituitary adenoma (FIPA) and young-onset sporadic pituitary adenoma patients are suggested to be screened for mutations in AIP, a gene described in 2006 and amenable to UK testing since 2008.
Methods: affected subjects have been tested in Exeter and Oxford genetic laboratories. Data were collected from 120 FIPA-families and 193 sporadic cases with young-onset disease (<30y) from 49 centres in the UK. The Mann–Whitney U test and X2 were used for statistical analysis.
Results: We have identified 38 AIP pos kindreds (16 families and 22 simplex kindreds), representing 77 affected patients. In the 16 families (13.3% of FIPA-families), out of 211 members tested, 121 were carriers and 55 were affected. Of the 193 young simplex patients (44.5% GH-excess), 22 (11.4%) were AIPpos and 17 unaffected carrier family members were identified. 96 (60%) AIPpos carriers had a founder mutation: p.R304*, 79 subjects and p.F269_H275dup, 17 subjects. In the AIPpos FIPA kindreds, those affected were more frequently males (60.7 vs 41.1%, P<0.001), had younger-onset disease (19y(15–28) vs 32.5y(24–45), P<0.001), and had higher frequency of pituitary apoplexy (12.2 vs 3.8%, P=0.034) compared to AIPneg FIPA families. There were no differences in tumour size (77.6 vs 72.8% macroadenomas) or extrasellar extension (40 vs 39.8%). Of young sporadic cases, AIPpos patients were more frequently males (81.8 vs 46.8%, P=0.003), with larger adenomas (100% vs 80.3% macroadenomas, P=0.043) and extrasellar extension (100 vs 50%, P=0.004), but no differences in age-of-onset (18(13.5–23) vs 20 (15–25)) or pituitary apoplexy. GH&GH/PRL-secreting adenomas were more frequent in AIPpos compared to AIPneg cases (FIPA: 76.8 vs 31%, P<0.001; sporadic: 95.5 vs 37.9%, P<0.001).
Conclusion: In the UK population, AIP mutations are found in 13.3% of families and 11.4% of young-onset patients. The two founder mutations identified are responsible for over half of the affected and unaffected carrier cases.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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