Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep4 | Adrenal and Cardiovascular Endocrinology | ECE2020

Copy number determination of steroid 21-hydroxylase gene for the genetic testing of congenital adrenal hyperplasia using real-time quantitative PCR

Doleschall Marton , Darvasi Otto , Igaz Peter , Patocs Attila

Congenital adrenal hyperplasia (CAH) is usually caused by the mutations of steroid 21-hydroxylase gene (CYP21A2). CYP21A2 resides in RCCX copy number variation (CNV), and the genomic structure of RCCX CNV creates difficulties in the genetic testing of CAH. An RCCX CNV allele on one chromosome can carry CYP21A2 in various numbers. Homozygous deletion of complete CYP21A2 results in most severe form of CAH, whereas an additional and intact ...

ea0037gp.18.06 | Pituitary–Basic and IGF-1 | ECE2015

Comparison of high-throughput platforms in evaluation of whole genome miRNA expression profiles in pituitary tissues

Butz Henriett , Darvasi Otto , Szabo Peter M , Liko Istvan , Pongor Lorinc , Czirjak Sandor , Racz Karoly , Patocs Attila

Introduction: There are three principal high-throughput methods that have been widely used to determine whole genome miRNAs expression profiles: i) microarrays, ii) qPCR based arrays, and iii) next generation sequencing (NGS). Our aim was to compare the results obtained from these platforms in normal and adenomatous pituitary samples and to validate the results by an independent sample set using qPCR.Material and methods: Using four normal pituitary (NP)...

ea0056gp37 | Adrenal cortex | ECE2018

MicroRNA expression profiling in adrenal myelolipoma, adrenocortical cancer and adrenocortical adenoma

Decmann Abel , Perge Pal , Nyiro Gabor , Darvasi Otto , Liko Istvan , Borka Katalin , Micsik Tamas , Patocs Attila , Igaz Peter

Background: Adrenal myelolipoma (AML) is a relatively common and invariably benign tumor composed of adipose tissue and hematopoietic elements. Due to the variable proportion of fat and hematopoietic elements, it is sometimes challenging to differentiate AML from adrenocortical carcinoma (ACC). MicroRNAs have been identified as promising biomarkers in many tumors, including adrenocortical neoplasms, but the microRNA expression of adrenal myelolipoma has not been investigated, ...

ea0056p779 | Pituitary - Basic | ECE2018

Next generation sequencing for characterization of mitochondrial genome in pituitary adenomas

Nemeth Kinga , Darvasi Otto , Liko Istvan , Szucs Nikolette , Czirjak Sandor , Reiniger Lilla , Szabo Borbala , Igaz Peter , Patocs Attila , Butz Henriett

Introduction: Disrupted mitochondrial functions and genetic variations of mitochondrial DNA (mtDNA) have been observed in different tumors. Regarding pituitary adenomas mtDNA was evaluated only in oncocytic type using PCR based methods and it showed high prevalence of Complex I variants. Next generation sequencing (NGS) allows high throughput sequencing and it is useful for accurate identification of heteroplasmy of mitochondrial genome as well.Aim: We a...

ea0063gp198 | Adrenal and Neuroendocrine - Clinical | ECE2019

Analysis of circulating microRNAs in primary aldosteronism

Decmann Abel , Nyirő Gabor , Darvasi Otto , Turai Peter , Bancos Irina , Pezzani Raffaele , Kraljevic Ivana , Kastelan Darko , Parasiliti-Caprino Mirko , Nirschl Nina , Heinrich Daniel , Patocs Attila , Igaz Peter

Introduction: Primary aldosteronism (PA) is a major cause of secondary hypertension. The two major forms of sporadic PA (aldosterone producing adenoma – APA and bilateral adrenal hyperplasia – BAH) can only be reliably differentiated by adrenal venous sampling (AVS). Several mutations have been described for APA, but the pathogenesis of BAH is poorly elucidated. Differentiation of APA and BAH is clinically pivotal, as their treatment is different. There is no blood-b...

ea0063p1057 | Pituitary and Neuroendocrinology 3 | ECE2019

Differentially expressed miRNAs in spindle cell oncocytoma of the pituitary gland

Krokker Lilla , Nyirő Gabor , Reininger Lilla , Darvasi Otto , Szucs Nikolette , Czirjak Sandor , Toth Miklos , Igaz Peter , Patocs Attila , Butz Henriett

Introduction: Spindle cell oncocytomas (SCO) of the pituitary are rare tumors accounting for 0.1–0.4% of all sellar tumors. Due to its rarity, little information is available regarding its pathogonesis. The altered gene expression and the possible pathogenetic role of microRNAs (miRNAs) have been identified in many tumor types, however, until now ther is no data regarding their role in pituitary oncocytoma.Materials and methods: Total RNA was extrac...

ea0070oc1.1 | Adrenal and Cardiovascular Endocrinology | ECE2020

Inhibition of glutaminases as a potential novel treatment for SDHB-associated pheochromocytomas/paragangliomas

Sarkadi Balázs , Katalin Meszaros , Krencz Ildiko , Canu Letizia , Krokker Lilla , Zakarias Sara , Barna Gabor , Sebestyen Anna , Papay Judit , Hujber Zoltan , Butz Henriett , Darvasi Otto , Igaz Peter , Doczi Judit , Luconi Michaela , Chinopoulos Christos , Patocs Attila

Pheochromocytoma/paragangliomas (Pheo/PGL) are rare neuroendocrine cancers with strong genetic background. Mutations in the SDHB subunit of succinate dehydrogenase (SDH) predispose to malignant disease with limited therapeutic options and poor prognosis. Novel prognostic markers and therapeutic targets are required to decrease the high mortality rate. Glutaminases play a crucial role in the metabolism of SDH impaired tumor cells. By using a host of cellular and molecu...