Vol 68, No 6 (2017)
Case report
Published online: 2017-10-12
The content of this article is also available in the following languages:
Polski
Polski
Familial isolated pituitary adenomas (FIPA). Case report of four families and review of literature
Abstract
Background
The majority of pituitary adenomas are sporadic, but about 5% of them occur in a familial setting, predominantly in multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenomas (FIPA), unrelated to the syndromes mentioned above, were also described. The clinical course of FIPA differs significantly from sporadic cases, and is characterized by a larger tumor size, more aggressive course and younger patients’ age at the moment of recognition.
Objectives
The aim of this retrospective study is to present 4 families in which two closely related people were diagnosed with pituitary adenomas. Probably these cases are clinical manifestations of FIPA.
Material and methods
Eight patients within four families, presenting with anterior pituitary tumors were described. The authors analyzed medical and family histories of the patients, their imaging pictures (pituitary MRI/CT) and hormonal tests.
Results
Family 1.: two sisters with acromegaly in the course of macroadenoma. Family 2.: two brothers with clinically nonsecreting macroadenomas. Family 3.: father and daughter with clinically nonsecreting macroadenomas. Family 4.: young man with acromegaly caused by macroadenoma and a daughter of his mother`s sister with microprolactinoma.
Conclusions.
Familial isolated pituitary adenomas are more common than it was previously thought, therefore, specific questioning regarding family history should be a part of the workup of all patients with pituitary adenomas. Genetically induced pituitary tumors often have aggressive behavior in terms of tumor expansion and resistance to different treatment options and often involve a multidisciplinary approach that combines endocrine, neurosurgical, and radiological specialists.
Keywords: familial isolated pituitary adenomaFIPAAIP geneAIP mutations
References
- 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.
![](https://journals.viamedica.pl/plugins/generic/popups/images/icons/close.png)