Hyperplasia-adenoma sequence in pituitary carcinogenesis: new insight into the role of AIP gene Abstract #89

Introduction: Pituitary adenoma predisposition has been recently associated with germline mutations in the Aryl-Hydrocarbon Receptor Interacting Protein (AIP) gene. This association has been detected in familial and, more rarely, in sporadic cases. The mechanisms by which the AIP mutations promote pituitary adenoma development remain unknown.
Aim(s): To gain insight into the role sustained by the AIP mutated gene in pituitary carcinogenesis, we performed a comprehensive analysis of loss of heterozygosis (LOH) regarding adenohypophysis, pituitary hyperplasia and adenoma, in the context of a novel germline AIP gene mutation harbored in two young heterozygous twins.
Materials and methods: DNA was extracted from blood and paraffin-embedded pituitary tissues, amplified by PCR. The fragments corresponding to the six exons of the AIP gene were sequenced and matched with the wild type reference.
Conference: 7th Annual ENETS Conference (2010)
Category: Basic
Presenting Author: MD Chiara Villa

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