Familial isolated pituitary adenoma (FIPA) accounts for approximately 2%–5% of all pituitary adenomas, with inactivating variants of the aryl hydrocarbon receptor‐interacting protein (AIP) gene representing the most frequent known genetic cause. Clinically, patients with AIP variants often have young‐onset macroadenoma...
T. S. Kolnikaj, Maren Ruka, A. Xhumari et al.· Human Mutation· 0 citations
The exact molecular mechanisms driving non-functioning-PitNETs invasiveness are still unclear, and reliable molecular biomarkers remain unknown. Although, the role of microRNAs (miRs) as promising markers of invasiveness in other PitNETs is increasingly highlighted. Our study aimed to identify novel miRs and diff...
B. Rak-Makowska, S. Barry, M. Maksymowicz et al.· European Journal of Endocrin...· 0 citations
Context Somatotrophinomas can occasionally occur in familial settings and may be associated with known germline mutations, such as MEN1, AIP, CDKN1B, PRKAR1A, SDHx, and MAX. Recently, the CHEK2 gene has emerged as a potential pituitary tumour predisposition gene. Objective To present a rare case of a patient with a pit...
D. Arjunan, Mohammad Hayat Bhat, Ashutosh Rai et al.· Endocrine Oncology· 0 citations
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