Frequency of AIP Gene Mutations in Young Patients With Acromegaly: A Registry-Based Study

Schöfl, Christof; Honegger, Jürgen; Droste, Michael; Grußendorf, M; Finke, R.; Plöckinger, Ursula; Berg, C; Willenberg, Holger S.; Lammert, Alexander; Klingmüller, Dietrich; Jaursch-Hancke, Cornelia; Tönjes, Anke; Schneidewind, Sabine; Flitsch, Jörg; Bullmann, Catharina; Dimopoulou, Christina; Stalla, Günter; Mayr, B; Hoeppner, Wolfgang; Schopohl, Jochen

doi:10.1210/jc.2014-2094

Cited by 37 publications

(17 citation statements)

References 19 publications

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“…AIP mutations were detected in 2-4% of young acromegalic patients with sporadic microadenoma and macroadenoma [17]. In our sporadic somatotropinomas AIP was positive in over 80% of tumours, which is in line with other studies [27], while Kasuki et al found low expression in only about 50% of somatotropinomas [18].…”

Section: Prace Oryginalnesupporting

confidence: 91%

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Markery Proliferacji I Inwazyjności W Guzach Przysadki Wydzielających Hormon Wzrostu

Bałdys-Waligórska

Wierzbicka

Sokołowski

et al. 2015

Endokrynologia Polska

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Introduction: In the search for markers of invasiveness of pituitary adenomas, we studied the expression of Ki-67 antigen, TOPO 2A (topoisomerase 2 alpha), AIP (Aryl Hydrocarbon Receptor-Interacting Protein), and VEGF (Vascular Endothelial Growth Factor) in somatotropinomas. Material and methods:We retrospectively studied a group of 31 patients who underwent pituitary tumour surgery. Expression of Ki-67, TOPO 2A, AIP, and VEGF in surgical specimens was determined by immunohistochemistry. Relations between quantitatively determined markers and clinical symptoms, tumour features, and MR imaging, were analysed. Acromegaly was confirmed by hormonal tests in all patients studied. Local invasiveness (cavernous sinus penetration, optic chiasm compression or suprasellar extension) was observed in 18/31 patients (58.1%).

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Section: Prace Oryginalnesupporting

confidence: 91%

“…Germline mutations of AIP are associated with familial isolated pituitary adenoma (FIPA) secreting hGH and/or PRL, found in young patients [16]. There are no somatic AIP mutations [17]. Mutant AIP loses the ability to reduce cell proliferation.…”

Section: Prace Oryginalnementioning

confidence: 99%

Markery Proliferacji I Inwazyjności W Guzach Przysadki Wydzielających Hormon Wzrostu

Bałdys-Waligórska

Wierzbicka

Sokołowski

et al. 2015

Endokrynologia Polska

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“…In sporadic acromegaly, overall AIP mutation prevalence was reported as 3.1-16 % [10][11][12]26]. In selected acromegalic populations such as patients diagnosed with a macroadenoma before the age of 30, the ratio is reported as 2.3 or 13.3 % in different studies [18,27] or patients diagnosed before the age 40 as 4 % [28] or patients with resistance to SSA as 4 % [24]. These studies were carried out in patients from different regions of Europe.…”

Section: Discussionmentioning

confidence: 99%

Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?

et al. 2015

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“…AIP gene defects are less common in sporadic pituitary adenomas identified in up to 8% of all cases [10,11]. However, when younger patients (<30 years old) with macroadenomas, or children and adolescents <18 years old are selected, up to 20.5% of cases with sporadic PAs may harbor an AIP mutation [12][13][14][15]. The exact mechanism of the pituitary tumorigenesis with AIP mutations is not clear.…”

Section: Familial Isolated Pituitary Adenomas (Fipa)mentioning

confidence: 99%

The Genetics of Pituitary Adenomas

Tatsi

Stratakis

2019

JCM

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The genetic landscape of pituitary adenomas (PAs) is diverse and many of the identified cases remain of unclear pathogenetic mechanism. Germline genetic defects account for a small percentage of all patients and may present in the context of relevant family history. Defects in AIP (mutated in Familial Isolated Pituitary Adenoma syndrome or FIPA), MEN1 (coding for menin, mutated in Multiple Endocrine Neoplasia type 1 or MEN 1), PRKAR1A (mutated in Carney complex), GPR101 (involved in X-Linked Acrogigantism or X-LAG), and SDHx (mutated in the so called "3 P association" of PAs with pheochromocytomas and paragangliomas or 3PAs) account for the most common familial syndromes associated with PAs. Tumor genetic defects in USP8, GNAS, USP48 and BRAF are some of the commonly encountered tissue-specific changes and may explain a larger percentage of the developed tumors. Somatic (at the tumor level) genomic changes, copy number variations (CNVs), epigenetic modifications, and differential expression of miRNAs, add to the variable genetic background of PAs.

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Frequency of AIP Gene Mutations in Young Patients With Acromegaly: A Registry-Based Study

Cited by 37 publications

References 19 publications

Markery Proliferacji I Inwazyjności W Guzach Przysadki Wydzielających Hormon Wzrostu

Markery Proliferacji I Inwazyjności W Guzach Przysadki Wydzielających Hormon Wzrostu

Prevalence of AIP mutations in a series of Turkish acromegalic patients: are synonymous AIP mutations relevant?

The Genetics of Pituitary Adenomas

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