Searchable abstracts of presentations at key conferences in endocrinology

ea0032p512 | Endocrine tumours and neoplasia | ECE2013

Biochemical diagnosis of pheochromocytoma using plasma free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions

Darr Roland , Peitzsch Mirko , Pamporaki Christina , Prejbisz Aleksander , Fassnacht Martin , Beuschlein Felix , Neumann Hartmut , Januszewicz Andrzej , Lenders Jacques , Eisenhofer Graeme

Objective: To document influences of sampling of blood under supine fasting versus seated non-fasting conditions on diagnosis of pheochromocytoma using plasma concentrations of normetanephrine, metanephrine and methoxytyramine (P-NMN/MN/MTY).Design and methods: P-NMN/MN/MTY were measured by liquid chromatography with tandem mass spectrometry in 695 patients at five centers, two of which complied with requirements for supine sampling after an overnight fa...

ea0035oc2.4 | Adrenal clinical | ECE2014

Detection of pheochromocytoma by enzyme immunoassay measurements of plasma metanephrines requires appropriately established upper cut-offs of reference intervals

Weismann Dirk , Raida Anna , Deutschbein Timo , Prejbisz Aleksander , Januszewicz Andrzej , Willenberg Holger S. , Peitzsch Mirko , Darr Roland , Klemm Reiner , Manz Georg , Bidlingmaier Martin , Eisenhofer Graeme , Fassnacht Martin

Aim: To determine diagnostic performance of normetanephrine (NMN) and metanephrine (MN) measured by an enzyme immunoassay (EIA) compared with liquid chromatographic–tandem mass spectrometry (LC-MS/MS).Methods: Subjects included 341 patients (174 males) with a mean age of 52 year (range 13–86) tested for PHEO, which was confirmed in 54 patients. Samples where collected from fasting patients after 30 min of supine rest and analyzed for NMN, MN an...

ea0014p164 | (1) | ECE2007

Analysis of germline mutations in patients with pheochromocytomas and paragangliomas

Krawczyk Aleksandra , Hasse-Lazar Kornelia , Ziaja Jacek , Pawlaczek Agnieszka , Krajewska Jolanta , Peczkowska Mariola , Preibisz Aleksander , Kubaszek Agata , Januszewicz Andrzej , Jarzab Barbara

There are two types of neoplasms derived from chromaffine tissue: pheochromocytomas (tumors of adrenal core) and paragangliomas (tumors located extraadrenally). Majority of these tumors are sporadic, although according to literature, when DNA analysis is carried out, hereditary disease can be diagnosed in about 25% of patients: Multiple Endocrine Neoplasia type 2 (MEN2A and MEN2B), von Hippel-Lindau Syndrome (VHL), Pheochromocytoma/Paraganglioma Syndrome (PPS) and neurofibroma...

ea0014p165 | (1) | ECE2007

RET exon 13 germline polymorphism in patients with pheochromocytomas and paragangliomas

Hasse-Lazar Kornelia , Pawlaczek Agnieszka , Krawczyk Aleksandra , Wiench Malgorzata , Oczko-Wojciechowska Malgorzata , Peczkowska Mariola , Preibisz Aleksander , Kubaszek Agata , Januszewicz Andrzej , Ziaja Jacek , Jarzab Barbara

Germinal mutations in protooncogene RET are associated with the inherited medullary thyroid carcinoma (MTC) which occurs as the sole manifestation of disease (FMTC) or, more frequently, as the part of multiple endocrine neoplasia (MEN2). The contribution of RET polymorphism to the occurrence of apparent sporadic MTCs is controversial. In our previous study we have found out that the frequency of RET 769 CTT>CTG polymorphism in patients with MTCs is not significantly higher...

ea0081oc13.6 | Oral Communications 13: Adrenal and Cardiovascular Endocrinology 2 | ECE2022

Machine Learning models for the accurate prediction of malignant pheochromocytomas and paragangliomas

Pamporaki Christina , Berends Annika MA , Filippatos Angelos , Prodanov Tamara , Meuter Leah , Prejbisz Aleksander , Beuschlein Felix , Fassnacht Martin , Timmers Henri , Noelting Svenja , Abhyankar Kaushik Ganesh , Contsantinescu Georgiana , Kunath Carola , Wang Katharina , Remde Hanna , Januszewicz Andrzej , Robledo Mercedes , Lenders Jacques , Kerstens Michiel , Pacak Karel , Eisenhofer Graeme

Introduction: Pheochromocytomas and paragangliomas (PPGLs) exhibit an up to 20% malignancy rate. Various clinical, genetic, and pathological features have been proposed as predictors of malignancy. However, until present there are no robust indices to reliably predict metastatic PPGLs.Aim: The aim of the present study was to prospectively validate the value of methoxytyramine as risk marker of metastatic disease and establish a machine learning (ML) mode...