Clinical and genetic aspects of familial isolated pituitary adenomas

Detalhes bibliográficos
Autor(a) principal: Vasilev, Vladimir
Data de Publicação: 2012
Outros Autores: Daly, Adrian, Naves, Luciana, Zacharieva, Sabina, Beckers, Albert
Tipo de documento: Artigo
Idioma: eng
Título da fonte: Clinics
Texto Completo: https://www.revistas.usp.br/clinics/article/view/19719
Resumo: Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >;10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >;20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.
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spelling Clinical and genetic aspects of familial isolated pituitary adenomasFamilial Isolated Pituitary AdenomasFIPAAIP GeneAIP MutationsPituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >;10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >;20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo2012-01-01info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.revistas.usp.br/clinics/article/view/1971910.6061/clinics/2012(Sup01)08Clinics; Vol. 67 No. supl.1 (2012); 37-41Clinics; v. 67 n. supl.1 (2012); 37-41Clinics; Vol. 67 Núm. supl.1 (2012); 37-411980-53221807-5932reponame:Clinicsinstname:Universidade de São Paulo (USP)instacron:USPenghttps://www.revistas.usp.br/clinics/article/view/19719/21783Vasilev, VladimirDaly, AdrianNaves, LucianaZacharieva, SabinaBeckers, Albertinfo:eu-repo/semantics/openAccess2012-05-24T20:33:34Zoai:revistas.usp.br:article/19719Revistahttps://www.revistas.usp.br/clinicsPUBhttps://www.revistas.usp.br/clinics/oai||clinics@hc.fm.usp.br1980-53221807-5932opendoar:2012-05-24T20:33:34Clinics - Universidade de São Paulo (USP)false
dc.title.none.fl_str_mv Clinical and genetic aspects of familial isolated pituitary adenomas
title Clinical and genetic aspects of familial isolated pituitary adenomas
spellingShingle Clinical and genetic aspects of familial isolated pituitary adenomas
Vasilev, Vladimir
Familial Isolated Pituitary Adenomas
FIPA
AIP Gene
AIP Mutations
title_short Clinical and genetic aspects of familial isolated pituitary adenomas
title_full Clinical and genetic aspects of familial isolated pituitary adenomas
title_fullStr Clinical and genetic aspects of familial isolated pituitary adenomas
title_full_unstemmed Clinical and genetic aspects of familial isolated pituitary adenomas
title_sort Clinical and genetic aspects of familial isolated pituitary adenomas
author Vasilev, Vladimir
author_facet Vasilev, Vladimir
Daly, Adrian
Naves, Luciana
Zacharieva, Sabina
Beckers, Albert
author_role author
author2 Daly, Adrian
Naves, Luciana
Zacharieva, Sabina
Beckers, Albert
author2_role author
author
author
author
dc.contributor.author.fl_str_mv Vasilev, Vladimir
Daly, Adrian
Naves, Luciana
Zacharieva, Sabina
Beckers, Albert
dc.subject.por.fl_str_mv Familial Isolated Pituitary Adenomas
FIPA
AIP Gene
AIP Mutations
topic Familial Isolated Pituitary Adenomas
FIPA
AIP Gene
AIP Mutations
description Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >;10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >;20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.
publishDate 2012
dc.date.none.fl_str_mv 2012-01-01
dc.type.driver.fl_str_mv info:eu-repo/semantics/article
info:eu-repo/semantics/publishedVersion
format article
status_str publishedVersion
dc.identifier.uri.fl_str_mv https://www.revistas.usp.br/clinics/article/view/19719
10.6061/clinics/2012(Sup01)08
url https://www.revistas.usp.br/clinics/article/view/19719
identifier_str_mv 10.6061/clinics/2012(Sup01)08
dc.language.iso.fl_str_mv eng
language eng
dc.relation.none.fl_str_mv https://www.revistas.usp.br/clinics/article/view/19719/21783
dc.rights.driver.fl_str_mv info:eu-repo/semantics/openAccess
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
publisher.none.fl_str_mv Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo
dc.source.none.fl_str_mv Clinics; Vol. 67 No. supl.1 (2012); 37-41
Clinics; v. 67 n. supl.1 (2012); 37-41
Clinics; Vol. 67 Núm. supl.1 (2012); 37-41
1980-5322
1807-5932
reponame:Clinics
instname:Universidade de São Paulo (USP)
instacron:USP
instname_str Universidade de São Paulo (USP)
instacron_str USP
institution USP
reponame_str Clinics
collection Clinics
repository.name.fl_str_mv Clinics - Universidade de São Paulo (USP)
repository.mail.fl_str_mv ||clinics@hc.fm.usp.br
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