English   español  
Please use this identifier to cite or link to this item: http://hdl.handle.net/10261/203531
Share/Impact:
Statistics
logo share SHARE logo core CORE   Add this article to your Mendeley library MendeleyBASE

Visualizar otros formatos: MARC | Dublin Core | RDF | ORE | MODS | METS | DIDL
Exportar a otros formatos:

Title

AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center

AuthorsDaly, Adrian F.; Cano González, David A.; Venegas Moreno, Eva; Petrossians, Patrick; Dios, Elena; Castermans, Emilie; Flores-Martínez, Alvaro; Bours, Vicent; Beckers, Albert; Soto-Moreno, Alfonso
KeywordsAIP
FIPA
Acromegaly
Somatostatin analog
Resistance
MEN1
Pituitary adenoma
Pasireotide
Issue Date2019
PublisherBioScientífica
CitationEndocrine Connections 8(4): 338-348 (2019)
Abstract[Background] Pituitary adenomas have a high disease burden due to tumor growth/invasion and disordered hormonal secretion. Germline mutations in genes such as MEN1 and AIP are associated with early onset of aggressive pituitary adenomas that can be resistant to medical therapy.
[Aims] We performed a retrospective screening study using published risk criteria to assess the frequency of AIP and MEN1 mutations in pituitary adenoma patients in a tertiary referral center.
[Methods] Pituitary adenoma patients with pediatric/adolescent onset, macroadenomas occurring ≤30 years of age, familial isolated pituitary adenoma (FIPA) kindreds and acromegaly or prolactinoma cases that were uncontrolled by medical therapy were studied genetically. We also assessed whether immunohistochemical staining for AIP (AIP-IHC) in somatotropinomas was associated with somatostatin analogs (SSA) response.
[Results] Fifty-five patients met the study criteria and underwent genetic screening for AIP/MEN1 mutations. No mutations were identified and large deletions/duplications were ruled out using MLPA. In a cohort of sporadic somatotropinomas, low AIP-IHC tumors were significantly larger (P = 0.002) and were more frequently sparsely granulated (P = 0.046) than high AIP-IHC tumors. No significant relationship between AIP-IHC and SSA responses was seen.
[Conclusions] Germline mutations in AIP/MEN1 in pituitary adenoma patients are rare and the use of general risk criteria did not identify cases in a large tertiary-referral setting. In acromegaly, low AIP-IHC was related to larger tumor size and more frequent sparsely granulated subtype but no relationship with SSA responsiveness was seen. The genetics of pituitary adenomas remains largely unexplained and AIP screening criteria could be significantly refined to focus on large, aggressive tumors in young patients.
Publisher version (URL)https://doi.org/10.1530/EC-19-0027
URIhttp://hdl.handle.net/10261/203531
DOI10.1530/EC-19-0027
E-ISSN2049-3614
Appears in Collections:(IBIS) Artículos
Files in This Item:
File Description SizeFormat 
endocrine_connections.pdf1,29 MBAdobe PDFThumbnail
View/Open
Show full item record
Review this work
 

Related articles:


WARNING: Items in Digital.CSIC are protected by copyright, with all rights reserved, unless otherwise indicated.