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. 2008 Oct;93(10):4146-51.
doi: 10.1210/jc.2008-1003. Epub 2008 Jul 15.

Large genomic deletions in AIP in pituitary adenoma predisposition

Marianthi Georgitsi  1 , Elina Heliövaara, Ralf Paschke, Ajith V K Kumar, Marc Tischkowitz, Outi Vierimaa, Pasi Salmela, Timo Sane, Ernesto De Menis, Salvatore Cannavò, Sadi Gündogdu, Anneke Lucassen, Louise Izatt, Simon Aylwin, Gul Bano, Shirley Hodgson, Christian A Koch, Auli Karhu, Lauri A Aaltonen
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Large genomic deletions in AIP in pituitary adenoma predisposition

Marianthi Georgitsi et al. J Clin Endocrinol Metab. 2008 Oct.

Abstract

Context: Germline mutations in AIP have been recently shown to cause pituitary adenoma predisposition (PAP). Subsequently, many intragenic germline mutations have been reported, both in familial and in sporadic settings.

Objective: Our objective was to evaluate the possible contribution of large genomic germline AIP deletions, an important mutation type in tumor predisposition syndromes, in PAP.

Design: Here, we applied the multiplex ligation-dependent probe amplification assay to examine whether large genomic AIP or MEN1 alterations account for a subset of PAP cases.

Patients: The study was performed on familial and sporadic pituitary adenoma cases of European origin, which had previously tested negative for germline AIP and MEN1 mutations by sequencing.

Results: Two of 21 pituitary adenoma families (9.5%) were found to harbor an AIP deletion. No copy number changes were detected among 67 sporadic pituitary adenoma patients. No MEN1 deletions were found.

Conclusions: The present study shows that large genomic AIP deletions account for a subset of PAP. Therefore, in suspected PAP cases undergoing counseling and AIP genetic testing, multiplex ligation-dependent probe amplification could be considered if direct sequencing does not identify a mutation.

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