RT Journal Article
T1 AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center.
A1 Daly, Adrian F
A1 Cano, David A
A1 Venegas-Moreno, Eva
A1 Petrossians, Patrick
A1 Dios, Elena
A1 Castermans, Emilie
A1 Flores-Martinez, Alvaro
A1 Bours, Vincent
A1 Beckers, Albert
A1 Soto-Moreno, Alfonso
K1 AIP
K1 FIPA
K1 MEN1
K1 acromegaly
K1 pasireotide
K1 pituitary adenoma
K1 resistance
K1 somatostatin analog
AB 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. 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. 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. 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. 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.
PB BioScientifica Ltd.
SN 2049-3614
YR 2019
FD 2019-04
LK http://hdl.handle.net/10668/13644
UL http://hdl.handle.net/10668/13644
LA en
NO Daly AF, Cano DA, Venegas-Moreno E, Petrossians P, Dios E, Castermans E, et al. AIP and MEN1 mutations and AIP immunohistochemistry in pituitary adenomas in a tertiary referral center. Endocr Connect. 2019 Apr;8(4):338-348.
DS RISalud
RD Apr 10, 2025