Clinical and genetic aspects of familial isolated pituitary adenomas
Autor(a) principal: | |
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Data de Publicação: | 2012 |
Outros Autores: | , , , |
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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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 |
_version_ |
1800222758288752640 |