ECE2013 Poster Presentations Pituitary – Clinical (<emphasis role="italic">Generously supported by IPSEN</emphasis>) (127 abstracts)
The p.R16H AIP sequence variant is relatively frequent in Romanian sporadic pituitary adenoma patients
Serban Radian 1, , Ionela Baciu 1 , Cristina Capatina 1, , Ileana Botusan 1, , Vasilie Ciubotaru 5 , Anda Dumitrascu 3 , Mihail Coculescu 1, & Catalina Poiana 1,
1Carol Davila University of Medicine, Bucharest, Romania; 2William Harvey Research Institute, Queen Mary University of London, London, UK; 3Constantin I. Parhon National Institute of Endocrinology, Bucharest, Romania; 4Department of Molecular Medicine and Surgery, Karolinska Institutet, Rolf Luft Research Center for Diabetes and Endocrinology, Stockholm, Sweden; 5Department of Neurosurgery, Bagdasar-Arseni Emergency Hospital, Bucharest, Romania.
Background: A large spectrum of AIP gene mutations has been identified in familial and sporadic pituitary adenomas (PA) with over 70 different mutations described to date. c.47G>A, p.R16H is an AIP exon 1 variant of unknown significance, its contribution to pituitary adenoma development being controversial.
Aim: Characterization of p.R16H prevalence in a large Romanian cohort of PA patients and controls.
Patients and methods: sporadic PA patients (95F/60M), mean age at symptoms onset 32 years old, were screened by sequencing of all six AIP exons and 108 control subjects (23M/85F) were screened by high resolution melting analysis of AIP exon 1 PCR products.
Results: We identified a heterozygous c.47G>A, p.R16H sequence change in four PA patients (2.58%) (1M/3F): one female acromegaly patient (35 years old at onset) with a macro-somatotropinoma resistant to somatostatin analogues, two female macroprolactinoma patients (23 and 26 years at onset) and one male nonfunctioning agressive PA (NFPA) (38 years at onset), associating familial intellectual disability.
One female control subject, 20 years old presented an abnormal AIP exon 1 PCR melting profile, confirmed by sequencing to be heterozygous p.R16H. She had been recruited while undergoing evaluation of a large thyroid nodule (FNAB diagnosis – follicular neoplasm), without clinical signs of PA (no imaging has been performed). Screening of relatives was only performed in one sister of the NFPA patient and was negative.
Conclusion: p.R16H is an AIP variant of unknown significance, relatively frequent among Romanian sporadic PA patients. More clinical and experimental data are necessary to establish the true role of this variant, in order to use this information in genetic counselling of the affected individuals.
Acknowledgments: This work was supported by CNCSIS TE 227/2010 grant from the Romanian Ministry of Education.
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Endocrine Abstracts
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