SFEBES2008 Poster Presentations Endocrine tumours and neoplasia (31 abstracts)
Menin-mutation negative MEN1-syndrome patients have no germline p27 (cyclin-dependent kinase inhibitor 1B) or AIP (aryl hydrocarbon receptor-interacting protein) mutations
Susana Igreja 1 , Harvinder Chahal 2 , Scott Akker 2 , Maria Gueorguiev 2 , Vera Popovic 4 , John Wass 3 , Ashley Grossman 2 & Márta Korbonits 2
1William Harvey Research Institute, Queen Mary University, London, UK; 2St Bartholomew’s Hospital, London, UK; 3Oxford Radcliffe Hospital, Oxford, UK; 4Belgrade University School of Medicine, Belgrade, Serbia.
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant negative disorder characterised by the occurrence of multiple adenomas including hyperplasia and/or neoplasm of the parathyroid glands, pancreatic islets and pituitary glands. Germline mutations in the menin gene predispose to the MEN1 syndrome; however, about 10–20% of patients with MEN1 do not have a detectable menin mutation. Recently, a mouse strain with a MEN1-like phenotype has been reported to have a homozygous germline p27 (CDKN1B) mutation. Additionally, two patients with a menin mutation negative MEN1 phenotype (a familial case with a somatotroph adenoma and a sporadic case with a corticotroph adenoma) have both been identified to harbour a germline p27 mutation. On the other hand, 2 patients with menin-negative MEN1 were found to harbour mutations in the AIP gene, a gene recently found to be affected in some familial pituitary adenoma cases.
We evaluated the possible contribution of CDKN1B and AIP germline mutations in our menin mutation-negative patient cohort by screening 11 sporadic and 2 familial cases of MEN1 syndrome with direct sequencing. Four patients were diagnosed with somatotroph adenomas, 3 patients with lactotroph adenomas, 2 patients with corticotroph adenomas, 1 patient had a non-functioning pituitary adenoma and 2 patients had a partially empty pituitary sella. Eight patients had primary hyperparathyroidism, 5 patients had carcinoid tumours and 1 patient had adrenal nodular hyperplasia.
There were no mutations in the coding region, exon/intron junction or the promoter area of the CDKN1B and AIP genes in this patient cohort, suggesting that mutations in these two genes are relatively uncommon in menin mutation negative MEN1-syndrome patients.
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Endocrine Abstracts
ISSN 1470-3947 (print) | ISSN 1479-6848 (online)
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