open access
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Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature
open access
Abstract
Abstract
Keywords
familial isolated pituitary adenoma, FIPA, AIP gene, AIP mutations


Title
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature
Journal
Issue
Article type
Case report
Pages
697-707
Published online
2017-10-12
Page views
1521
Article views/downloads
3776
DOI
Pubmed
Bibliographic record
Endokrynol Pol 2017;68(6):697-707.
Keywords
familial isolated pituitary adenoma
FIPA
AIP gene
AIP mutations
Authors
Joanna Elżbieta Malicka
Joanna Świrska
Maria Kurowska
Marta Dudzińska
Jerzy S. Tarach


- Ezzat S, Asa SL, Couldwell WT, et al. The prevalence of pituitary adenomas: a systematic review. Cancer. 2004; 101(3): 613–619.
- Daly AF, Rixhon M, Adam C, et al. High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium. J Clin Endocrinol Metab. 2006; 91(12): 4769–4775.
- Fernandez A, Karavitaki N, Wass JAH. Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK). Clin Endocrinol (Oxf). 2010; 72(3): 377–382.
- Daly AF, Tichomirowa MA, Beckers A, et al. Update on familial pituitary tumors: from multiple endocrine neoplasia type 1 to familial isolated pituitary adenoma. Horm Res. 2009; 71 Suppl 1: 105–111.
- Beckers A, Aaltonen L, Daly A, et al. Familial Isolated Pituitary Adenomas (FIPA) and the Pituitary Adenoma Predisposition due to Mutations in the Aryl Hydrocarbon Receptor Interacting Protein (AIP) Gene. Endocr Rev. 2013; 34(2): 239–277.
- Vergès B, Boureille F, Goudet P, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. J Clin Endocrinol Metab. 2002; 87(2): 457–465.
- Rostomyan L, Beckers A. Screening for genetic causes of growth hormone hypersecretion. Growth Horm IGF Res. 2016; 30-31: 52–57.
- Rostomyan L, Daly AF, Beckers A. Pituitary gigantism: Causes and clinical characteristics. Ann Endocrinol (Paris). 2015; 76(6): 643–649.
- Bertherat J. Carney complex (CNC). Orphanet J Rare Dis. 2006; 1: 21.
- Daly AF, Jaffrain-Rea ML, Ciccarelli A, et al. Clinical characterization of familial isolated pituitary adenomas. J Clin Endocrinol Metab. 2006; 91(9): 3316–3323.
- Formosa R, Vassallo J. Aryl Hydrocarbon Receptor-Interacting Protein (AIP) N-Terminus Gene Mutations Identified in Pituitary Adenoma Patients Alter Protein Stability and Function. Horm Cancer. 2017; 8(3): 174–184.
- Daly AF, Vanbellinghen JF, Khoo SK, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007; 92(5): 1891–1896.
- Cazabat L, Bouligand J, Salenave S, et al. Germline AIP mutations in apparently sporadic pituitary adenomas: prevalence in a prospective single-center cohort of 443 patients. J Clin Endocrinol Metab. 2012; 97(4): E663–E670.
- Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol. 2007; 157(4): 371–382.
- Malicka J, Świrska J, Nowakowski A. Familial acromegaly - case study of two sisters with acromegaly. Endokrynol Pol. 2011; 62(6): 554–557.
- Frohman LA, Eguchi K. Familial acromegaly. Growth Horm IGF Res. 2004; 14 Suppl A: S90–S96.
- Preda V, Korbonits M, Cudlip S, et al. Low rate of germline AIP mutations in patients with apparently sporadic pituitary adenomas before the age of 40: a single-centre adult cohort. Eur J Endocrinol. 2014; 171(5): 659–666.
- Barlier A, Vanbellinghen JF, Daly AF, et al. Mutations in the aryl hydrocarbon receptor interacting protein gene are not highly prevalent among subjects with sporadic pituitary adenomas. J Clin Endocrinol Metab. 2007; 92(5): 1952–1955.
- Tichomirowa MA, Barlier A, Daly AF, et al. High prevalence of AIP gene mutations following focused screening in young patients with sporadic pituitary macroadenomas. Eur J Endocrinol. 2011; 165(4): 509–515.