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dc.contributor.authorIacovazzo, Den_US
dc.contributor.authorHernández-Ramírez, LCen_US
dc.contributor.authorKorbonits, Men_US
dc.date.accessioned2017-05-08T14:42:02Z
dc.date.available2017-03-10en_US
dc.date.issued2017-03en_US
dc.date.submitted2017-04-16T08:47:50.434Z
dc.identifier.urihttp://qmro.qmul.ac.uk/xmlui/handle/123456789/22683
dc.description.abstractINTRODUCTION: Although most pituitary adenomas occur sporadically, these common tumors can present in a familial setting in approximately 5% of cases. Germline mutations in several genes with autosomal dominant (AIP, MEN1, CDKN1B, PRKAR1A, SDHx) or X-linked dominant (GPR101) inheritance are causative of familial pituitary adenomas. Due to variable disease penetrance and occurrence of de novo mutations, some patients harboring germline mutations have no family history of pituitary adenomas (simplex cases). Areas covered: We summarize the recent findings on the role of germline mutations associated with familial pituitary adenomas in patients with sporadic clinical presentation. Expert commentary: Up to 12% of patients with young onset pituitary adenomas (age at diagnosis/onset ≤30 years) and up to 25% of simplex patients with gigantism carry mutations in the AIP gene, while most cases of X-linked acrogigantism (XLAG) due to GPR101 duplication are simplex female patients with very early disease onset (<5 years). With regard to the syndromes of multiple endocrine neoplasia (MEN), MEN1 mutations can be identified in a significant proportion of patients with childhood onset prolactinomas. Somatotroph and lactotroph adenomas are the most common pituitary adenomas associated with germline predisposing mutations. Genetic screening should be considered in patients with young onset pituitary adenomas.en_US
dc.format.extent143 - 153en_US
dc.languageengen_US
dc.language.isoenen_US
dc.relation.ispartofExpert Rev Endocrinol Metaben_US
dc.rightsThis is an Accepted Manuscript of an article published by Taylor & Francis in Expert Review of Endocrinology and Metabolism on 31 Mar 2017, available online: http://www.tandfonline.com/10.1080/17446651.2017.1306439.
dc.subjectAIPen_US
dc.subjectFIPAen_US
dc.subjectGPR101en_US
dc.subjectMEN1en_US
dc.subjectNFPAen_US
dc.subjectPituitary adenomaen_US
dc.subjectacromegalyen_US
dc.subjectgermline mutationen_US
dc.subjectgigantismen_US
dc.subjectprolactinomaen_US
dc.titleSporadic pituitary adenomas: the role of germline mutations and recommendations for genetic screening.en_US
dc.typeArticle
dc.rights.holder© 2017 Informa UK Limited, trading as Taylor & Francis Group.
dc.identifier.doi10.1080/17446651.2017.1306439en_US
pubs.author-urlhttps://www.ncbi.nlm.nih.gov/pubmed/30063429en_US
pubs.issue2en_US
pubs.notesNot knownen_US
pubs.organisational-group/Queen Mary University of London
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry/William Harvey Research Institute
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry/William Harvey Research Institute/Endocrinology
pubs.organisational-group/Queen Mary University of London/Faculty of Medicine & Dentistry/William Harvey Research Institute/REF William Harvey Research Institute
pubs.organisational-group/Queen Mary University of London/Impact Leads
pubs.organisational-group/Queen Mary University of London/REF
pubs.organisational-group/Queen Mary University of London/REF/REF - WHRI
pubs.publication-statusPublisheden_US
pubs.volume12en_US


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