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Page 1
The Spectrum of Familial Pituitary Neuroendocrine Tumors.
Armeni E, Grossman A. Armeni E, et al. Endocr Pathol. 2023 Mar;34(1):57-78. doi: 10.1007/s12022-022-09742-0. Epub 2022 Nov 18. Endocr Pathol. 2023. PMID: 36401106 Review.
The mostly studied molecular pathways implicated are the protein kinase A and phosphatidyl-inositol pathways, which are in the main related to mutations in the syndromes of familial isolated pituitary adenoma (FIPA), Carney complex syndrome, and X-link …
The mostly studied molecular pathways implicated are the protein kinase A and phosphatidyl-inositol pathways, which are in the main related …
AIP variant causing familial prolactinoma.
Carty DM, Harte R, Drummond RS, Ward R, Magid K, Collier D, Owens M, Korbonits M. Carty DM, et al. Pituitary. 2021 Feb;24(1):48-52. doi: 10.1007/s11102-020-01085-5. Epub 2020 Oct 3. Pituitary. 2021. PMID: 33010004 Free PMC article.
Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are increasingly recognised as a cause of familial isolated pituitary adenoma. AIP-associated tumours are most commonly growth hormone (GH) producing. ...
Pathogenic variants in the aryl hydrocarbon receptor-interacting protein (AIP) gene are increasingly recognised as a cause of familial …
Molecular, functional, and histopathological classification of the pituitary neuroendocrine neoplasms.
Inomoto C, Tahara S, Oyama K, Kimura M, Matsuno A, Teramoto A, Osamura RY. Inomoto C, et al. Brain Tumor Pathol. 2021 Jul;38(3):183-188. doi: 10.1007/s10014-021-00410-5. Epub 2021 Jul 16. Brain Tumor Pathol. 2021. PMID: 34269950 Review.
Familial pituitary adenomas are another aspect which has been clarified such as MEN1, Carney's complex, familial isolated pituitary adenoma and McCune-Albright syndrome. The pituitary adenomas often produce GH or PRL, hormones of PIT1 transcription fac …
Familial pituitary adenomas are another aspect which has been clarified such as MEN1, Carney's complex, familial isolated p …
Acromegaly and genetics.
de Lapiscina IM, Baquero C, Castaño L. de Lapiscina IM, et al. Vitam Horm. 2026;131:235-263. doi: 10.1016/bs.vh.2025.10.008. Epub 2025 Dec 16. Vitam Horm. 2026. PMID: 41912295 Review.
Hereditary GH-secreting PitNETs can manifest as isolated tumors, such as in familial isolated pituitary adenoma (FIPA) including cases with AIP variants or GPR101 microduplications, (X- linked acrogigantism) or can be part of syndromes like multiple en …
Hereditary GH-secreting PitNETs can manifest as isolated tumors, such as in familial isolated pituitary adenoma …
The clinical aspects of pituitary tumour genetics.
Dénes J, Korbonits M. Dénes J, et al. Endocrine. 2021 Mar;71(3):663-674. doi: 10.1007/s12020-021-02633-0. Epub 2021 Feb 4. Endocrine. 2021. PMID: 33543431 Free PMC article. Review.
While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated pituitary adenoma, related to AIP or X-linked acrogigantism], or in a syndromic disorder, such as multiple endocrine neopl …
While most pituitary tumours are sporadic, around 5% of the cases arise in a familial setting, either isolated [familial isolated …
Reassessing the role of the p.(Arg304Gln) missense AIP variant in pituitary tumorigenesis.
Loughrey PB, Mothojakan NB, Iacovazzo D, Arni A, Aflorei ED, Arnaldi G, Barlier A, Beckers A, Bizzi MF, Chanson P, Dal J, Daly AF, Dang MN, David A, Andrade MO, Else T, Elston MS, Evans A, Ferrau F, Fica S, Flanagan D, Gadelha MR, Grossman AB, Kapur S, Khoo B, Kumar AV, Kumar-Sinha C, Lechan RM, Ludman M, Metherell LA, Miljic D, Mourougavelou V, Musat M, Occhi G, Owens M, Pascanu I, Pinheiro SVB, Radian S, Ribeiro-Oliveira A, Schöfl C, Patel KA, Hernández-Ramírez LC, Korbonits M. Loughrey PB, et al. Eur J Endocrinol. 2025 Mar 27;192(4):385-397. doi: 10.1093/ejendo/lvaf044. Eur J Endocrinol. 2025. PMID: 40070360 Free PMC article.
DESIGN: Data were collected on published R304Q pituitary neuroendocrine tumour cases and from International Familial Isolated Pituitary Adenoma Consortium R304Q cases (n = 38, R304Q cohort). Clinical features, population cohort frequency, computational …
DESIGN: Data were collected on published R304Q pituitary neuroendocrine tumour cases and from International Familial Isolated …
A review of multiomics platforms in pituitary adenoma pathogenesis.
Mouchtouris N, Smit RD, Piper K, Prashant G, Evans JJ, Karsy M. Mouchtouris N, et al. Front Biosci (Landmark Ed). 2022 Mar 4;27(3):77. doi: 10.31083/j.fbl2703077. Front Biosci (Landmark Ed). 2022. PMID: 35345309 Free article. Review.
Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma (FIPA), multiple endocrine neoplasia (MEN), neurofibromatosis 1 (NF1), and Carney complex. ...
Germline mutations in various familial PitNETs are discussed including those in familial isolated pituitary adenoma …
21 results