ICEECE2012 Poster Presentations Endocrine tumours and neoplasia (112 abstracts)
Multiple endocrine neoplasia syndrome type 1 (MEN-1) in Sardinian population: low prevalence of Men-1 mutations and detection of a new inactivating mutation of the CDKI gene p27
M. Mastinu 1 , F. Cetani 2 , C. Marcocci 2 , E. Pardi 2 , A. Cappai 1 , C. Satta 1 , F. Badessi 3 , A. Delitala 3 , R. Lai 3 , G. Fanciulli 3 & S. Mariotti 1
University of Sassari, Sassari, Italy.
Introduction: The genetic basis of multiple endocrine neoplasia type 1 (MEN-1) syndrome is often represented by inactivating mutations of Men-1 gene, found in 50–80% of different series. Recently, other mutations of genes encoding for the CDKI complex (p15, p18, p21, and p27) and of the AIP gene have been described in a small number of Men-1-negative patients.
Methods and results: Since 2002 we tested for Men-1 mutations 16 patients born and living in Sardinia, an island with approximately 1,500,000 inhabitants and peculiar genetic background due to long-lasting isolation. The series included 13 patients with a clear MEN-1 phenotype (7 with familial history, for a total of 5 families, and 6 apparently sporadic) and 3 with apparent MEN-1 phenotype (1 familial and 2 apparently sporadic). Men-1 mutations were detected in only 3 cases (2 familial, 1 sporadic), corresponding to 27.2% of patients with clear MEN-1 phenotype. Identified mutations were Arg229His in exon 4 and splicing 894-9 G>A (familial cases) and frameshift 1284-of G in the exon 8 (sporadic case). We then started to look for the presence of other mutations in Men-1-negative patients and to date we completed the analysis for p27. A new p27 mutation (c.372_373delCT in exon 1) was found in a patient with an apparently sporadic typical MEN-1 syndrome (neuroendocrine tumors of the pancreas and distal duodenum and primary hyperparathyroidism due to multiple parathyroid adenomas).
Conclusion: These results suggest that in the particular context of the Sardinian population, the genetic basis of MEN-1 could be different from that commonly observed, with a relatively low prevalence of Men-1 as compared to non-Men-1 mutations. The detection in this small series of a new p27 mutation confirms that a complete screening for rare mutations is advisable in all Men-1 negative patients with clear MEN-1 phenotype, irrespective of positive family history.
Declaration of interest: The authors declare that there is no conflict of interest that could be perceived as prejudicing the impartiality of the research project.
Funding: This research did not receive any specific grant from any funding agency in the public, commercial or not-for-profit sector.
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Endocrine Abstracts
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